G2C (p.Gly2Cys) variant of ATP1A2 (P50993)
G2C (p.Gly2Cys) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- gnomAD 1-160115865-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.53
- CADD 27.80
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available