D47H (p.Asp47His) variant of ATP1A2 (P50993)
D47H (p.Asp47His) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- gnomAD 1-160121213-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.60
- CADD 29.70
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available