G46V (p.Gly46Val) variant of ATP6V1A (P38606)
G46V (p.Gly46Val) in ATP6V1A (P38606) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD 3-113781104-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.61
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available