E8D (p.Glu8Asp) variant of ATP1A2 (P50993)
E8D (p.Glu8Asp) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 1-160120917-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available