T57K (p.Thr57Lys) variant of ATP1A1 (P05023)
T57K (p.Thr57Lys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
T57K (p.Thr57Lys) variant details
- p.Thr57Lys
- gnomAD 1-116384829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 25.70
- PolyPhen-2 0.82
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available