G6C (p.Gly6Cys) variant of ATP1A2 (P50993)
G6C (p.Gly6Cys) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 1-160120909-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.55
- CADD 25.20
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available