G6V (p.Gly6Val) variant of ATP1A2 (P50993)
G6V (p.Gly6Val) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 1-160120910-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available