P7A (p.Pro7Ala) variant of ATP6V1A (P38606)
P7A (p.Pro7Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD 3-113778772-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available