G2V (p.Gly2Val) variant of ATP1A2 (P50993)
G2V (p.Gly2Val) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD 1-160115866-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available