E88Q (p.Glu88Gln) variant of ATP1A1 (P05023)
E88Q (p.Glu88Gln) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E88Q (p.Glu88Gln) variant details
- p.Glu88Gln
- gnomAD 1-116387366-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.58
- CADD 24.30
- PolyPhen-2 0.19
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available