Y129C (p.Tyr129Cys) variant of ATP6V0A4 (Q9HBG4)
Y129C (p.Tyr129Cys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y129C (p.Tyr129Cys) variant details
- p.Tyr129Cys
- gnomAD rs1164726585
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.58
- MetaSVM 0.00
- CADD 26.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available