Y23H (p.Tyr23His) variant of ATP6V0A4 (Q9HBG4)
Y23H (p.Tyr23His) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- gnomAD rs1433112818
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.70
- ESM-1b 0.78
- AlphaMissense 0.89
- MetaLR 0.47
- MetaSVM -0.10
- CADD 23.60
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available