L59W (p.Leu59Trp) variant of ATP1A1 (P05023)
L59W (p.Leu59Trp) in ATP1A1 (P05023) 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.
L59W (p.Leu59Trp) variant details
- p.Leu59Trp
- gnomAD 1-116384835-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.70
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available