P77L (p.Pro77Leu) variant of ATP1A1 (P05023)
P77L (p.Pro77Leu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P77L (p.Pro77Leu) variant details
- p.Pro77Leu
- gnomAD 1-116387334-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.80
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available