H22Y (p.His22Tyr) variant of ATP6V1A (P38606)
H22Y (p.His22Tyr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- gnomAD rs1233286633
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.35
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available