P7S (p.Pro7Ser) variant of ATP6V1A (P38606)
P7S (p.Pro7Ser) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD 3-113778772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available