G2E (p.Gly2Glu) variant of ATP1A1 (P05023)
G2E (p.Gly2Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- gnomAD 1-116373516-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available