P7H (p.Pro7His) variant of ATP6V1A (P38606)
P7H (p.Pro7His) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 3-113778773-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.52
- CADD 23.80
- PolyPhen-2 0.44
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available