P11H (p.Pro11His) variant of ATP1A2 (P50993)
P11H (p.Pro11His) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 1-160120925-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.27
- CADD 22.00
- PolyPhen-2 0.32
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available