V43G (p.Val43Gly) variant of ATP6V1A (P38606)
V43G (p.Val43Gly) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V43G (p.Val43Gly) variant details
- p.Val43Gly
- ExAC rs756435196
- gnomAD rs756435196
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.77
- CADD 29.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available