R81H (p.Arg81His) variant of ATP6V1A (P38606)
R81H (p.Arg81His) 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 0.70 / 1. The record also includes population frequency data and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- rs1351534048
- NCI-TCGA Cosmic COSV9985
- TOPMed rs1351534048
- gnomAD rs1351534048
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)
- Structural context available