| ~ | 8816 (A/G) | 8816 (A/C) | 8816 (A/T) |
|---|---|---|---|
| ~ | 8816 (CAA/CGA) | 8816 (CAA/CCA) | 8816 (CAA/CTA) |
| MitImpact id | MI.614 | MI.616 | MI.615 |
| Chr | chrM | chrM | chrM |
| Start | 8816 | 8816 | 8816 |
| Ref | A | A | A |
| Alt | G | C | T |
| Gene symbol | MT-ATP6 | MT-ATP6 | MT-ATP6 |
| Extended annotation | mitochondrially encoded ATP synthase membrane subunit 6 | mitochondrially encoded ATP synthase membrane subunit 6 | mitochondrially encoded ATP synthase membrane subunit 6 |
| Gene position | 290 | 290 | 290 |
| Gene start | 8527 | 8527 | 8527 |
| Gene end | 9207 | 9207 | 9207 |
| Gene strand | + | + | + |
| Codon substitution | CAA/CGA | CAA/CCA | CAA/CTA |
| AA position | 97 | 97 | 97 |
| AA ref | Q | Q | Q |
| AA alt | R | P | L |
| Functional effect general | missense | missense | missense |
| Functional effect detailed | missense | missense | missense |
| OMIM id | 516060 | 516060 | 516060 |
| HGVS | NC_012920.1:g.8816A>G | NC_012920.1:g.8816A>C | NC_012920.1:g.8816A>T |
| HGNC id | 7414 | 7414 | 7414 |
| Respiratory Chain complex | V | V | V |
| Ensembl gene id | ENSG00000198899 | ENSG00000198899 | ENSG00000198899 |
| Ensembl transcript id | ENST00000361899 | ENST00000361899 | ENST00000361899 |
| Ensembl protein id | ENSP00000354632 | ENSP00000354632 | ENSP00000354632 |
| Uniprot id | P00846 | P00846 | P00846 |
| Uniprot name | ATP6_HUMAN | ATP6_HUMAN | ATP6_HUMAN |
| Ncbi gene id | 4508 | 4508 | 4508 |
| Ncbi protein id | YP_003024031.1 | YP_003024031.1 | YP_003024031.1 |
| PhyloP 100V | 8.899 | 8.899 | 8.899 |
| PhyloP 470Way | 0.929 | 0.929 | 0.929 |
| PhastCons 100V | 1 | 1 | 1 |
| PhastCons 470Way | 0.88 | 0.88 | 0.88 |
| PolyPhen2 | probably_damaging | probably_damaging | probably_damaging |
| PolyPhen2 score | 0.97 | 0.98 | 0.97 |
| SIFT | deleterious | deleterious | deleterious |
| SIFT score | 0.02 | 0.01 | 0.04 |
| SIFT4G | Damaging | Damaging | Damaging |
| SIFT4G score | 0.0 | 0.014 | 0.0 |
| VEST | Neutral | Neutral | Neutral |
| VEST pvalue | 0.48 | 0.18 | 0.32 |
| VEST FDR | 0.65 | 0.65 | 0.65 |
| Mitoclass.1 | damaging | damaging | damaging |
| SNPDryad | Pathogenic | Pathogenic | Pathogenic |
| SNPDryad score | 0.91 | 0.98 | 0.99 |
| MutationTaster | Disease | Disease | Disease |
| MutationTaster score | 0.999999 | 1.0 | 1.0 |
| MutationTaster converted rankscore | 0.58761 | 0.81001 | 0.81001 |
| MutationTaster model | simple_aae | simple_aae | simple_aae |
| MutationTaster AAE | Q97R | Q97P | Q97L |
| fathmm | Tolerated | Tolerated | Tolerated |
| fathmm score | 4.37 | 4.33 | 4.34 |
| fathmm converted rankscore | 0.02277 | 0.02363 | 0.02341 |
| AlphaMissense | likely_pathogenic | likely_pathogenic | ambiguous |
| AlphaMissense score | 0.7826 | 0.7504 | 0.5209 |
| CADD | Deleterious | Deleterious | Deleterious |
| CADD score | 3.473115 | 3.24484 | 3.795447 |
| CADD phred | 23.0 | 22.8 | 23.4 |
| PROVEAN | Damaging | Damaging | Damaging |
| PROVEAN score | -3.47 | -4.92 | -6.09 |
| MutationAssessor | high | high | high |
| MutationAssessor score | 4.655 | 4.655 | 4.31 |
| EFIN SP | Neutral | Damaging | Neutral |
| EFIN SP score | 0.632 | 0.534 | 0.608 |
| EFIN HD | Damaging | Damaging | Damaging |
| EFIN HD score | 0.16 | 0.198 | 0.124 |
| MLC | Neutral | Neutral | Neutral |
| MLC score | 0.09964391 | 0.09964391 | 0.09964391 |
| PANTHER score | . | . | . |
| PhD-SNP score | . | . | . |
| APOGEE1 | Pathogenic | Pathogenic | Neutral |
| APOGEE1 score | 0.51 | 0.56 | 0.48 |
| APOGEE2 | VUS+ | VUS+ | VUS+ |
| APOGEE2 score | 0.597762007357912 | 0.676103053085185 | 0.55228517705591 |
| CAROL | deleterious | deleterious | deleterious |
| CAROL score | 1 | 1 | 1 |
| Condel | neutral | neutral | neutral |
| Condel score | 0.03 | 0.02 | 0.04 |
| COVEC WMV | deleterious | deleterious | deleterious |
| COVEC WMV score | 6 | 6 | 5 |
| MtoolBox | deleterious | deleterious | deleterious |
| MtoolBox DS | 0.81 | 0.85 | 0.78 |
| DEOGEN2 | Tolerated | Tolerated | Tolerated |
| DEOGEN2 score | 0.11265 | 0.206604 | 0.126814 |
| DEOGEN2 converted rankscore | 0.42909 | 0.56599 | 0.45344 |
| Meta-SNP | . | . | . |
| Meta-SNP score | . | . | . |
| PolyPhen2 transf | low impact | low impact | low impact |
| PolyPhen2 transf score | -2.19 | -2.36 | -2.19 |
| SIFT_transf | medium impact | medium impact | medium impact |
| SIFT transf score | -0.66 | -0.84 | -0.49 |
| MutationAssessor transf | high impact | high impact | medium impact |
| MutationAssessor transf score | 2.31 | 2.31 | 1.22 |
| CHASM | Neutral | Neutral | Neutral |
| CHASM pvalue | 0.54 | 0.56 | 0.36 |
| CHASM FDR | 0.9 | 0.9 | 0.9 |
| ClinVar id | 376981.0 | . | . |
| ClinVar Allele id | 363859.0 | . | . |
| ClinVar CLNDISDB | MedGen:CN517202 | . | . |
| ClinVar CLNDN | not_provided | . | . |
| ClinVar CLNSIG | Uncertain_significance | . | . |
| MITOMAP Disease Clinical info | . | . | . |
| MITOMAP Disease Status | . | . | . |
| MITOMAP Disease Hom/Het | ./. | ./. | ./. |
| MITOMAP General GenBank Freq | 0.0% | . | . |
| MITOMAP General GenBank Seqs | 0 | . | . |
| MITOMAP General Curated refs | . | . | . |
| MITOMAP Variant Class | polymorphism | . | . |
| gnomAD 3.1 AN | 56434.0 | . | . |
| gnomAD 3.1 AC Homo | 1.0 | . | . |
| gnomAD 3.1 AF Hom | 1.77198e-05 | . | . |
| gnomAD 3.1 AC Het | 0.0 | . | . |
| gnomAD 3.1 AF Het | 0.0 | . | . |
| gnomAD 3.1 filter | PASS | . | . |
| HelixMTdb AC Hom | . | . | . |
| HelixMTdb AF Hom | . | . | . |
| HelixMTdb AC Het | . | . | . |
| HelixMTdb AF Het | . | . | . |
| HelixMTdb mean ARF | . | . | . |
| HelixMTdb max ARF | . | . | . |
| ToMMo 54KJPN AC | . | . | . |
| ToMMo 54KJPN AF | . | . | . |
| ToMMo 54KJPN AN | . | . | . |
| COSMIC 90 | . | . | . |
| dbSNP 156 id | rs1057520102 | . | . |
