G6E (p.Gly6Glu) variant of ATP1A1 (P05023)
G6E (p.Gly6Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD 1-116384018-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.50
- CADD 27.10
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available