D13Y (p.Asp13Tyr) variant of ATP6V1A (P38606)
D13Y (p.Asp13Tyr) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- gnomAD 3-113778790-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.50
- CADD 25.20
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available