H52L (p.His52Leu) variant of ATP1A1 (P05023)
H52L (p.His52Leu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H52L (p.His52Leu) variant details
- p.His52Leu
- gnomAD 1-116384814-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Literature evidence available