A12V (p.Ala12Val) variant of ATP1A2 (P50993)
A12V (p.Ala12Val) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 1-160120928-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available