G76A (p.Gly76Ala) variant of ATP6V1A (P38606)
G76A (p.Gly76Ala) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G76A (p.Gly76Ala) variant details
- p.Gly76Ala
- gnomAD 3-113784239-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available