R57S (p.Arg57Ser) variant of ATP6V0A4 (Q9HBG4)
R57S (p.Arg57Ser) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R57S (p.Arg57Ser) variant details
- p.Arg57Ser
- Ensembl rs1563012304
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.84
- MetaSVM 0.74
- CADD 23.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available