D11H (p.Asp11His) variant of ATP6V1A (P38606)
D11H (p.Asp11His) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D11H (p.Asp11His) variant details
- p.Asp11His
- gnomAD 3-113778784-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.50
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available