R81C (p.Arg81Cys) variant of ATP6V1A (P38606)
R81C (p.Arg81Cys) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R81C (p.Arg81Cys) variant details
- p.Arg81Cys
- rs1283020403
- NCI-TCGA Cosmic COSV5636
- gnomAD rs1283020403
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 0.26
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available