Y129H (p.Tyr129His) variant of ATP6V0A4 (Q9HBG4)
Y129H (p.Tyr129His) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y129H (p.Tyr129His) variant details
- p.Tyr129His
- TOPMed rs1353689346
- gnomAD rs1353689346
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.21
- MetaSVM -0.81
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available