R66H (p.Arg66His) variant of ATP6V0A4 (Q9HBG4)
R66H (p.Arg66His) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- TOPMed rs1265979906
- gnomAD rs1265979906
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.81
- MetaSVM 0.81
- CADD 31.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available