G2R (p.Gly2Arg) variant of ATP1A1 (P05023)
G2R (p.Gly2Arg) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- gnomAD 1-116373515-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.42
- CADD 20.20
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available