S4Y (p.Ser4Tyr) variant of ATP6V1A (P38606)
S4Y (p.Ser4Tyr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- gnomAD 3-113778764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available