A16E (p.Ala16Glu) variant of ATP1A2 (P50993)
A16E (p.Ala16Glu) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 1-160120940-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.95
- Population evidence available
- Structural context available
- Literature evidence available