H52Y (p.His52Tyr) variant of ATP1A1 (P05023)
H52Y (p.His52Tyr) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- TOPMed rs1347327000
- gnomAD rs1347327000
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- MetaLR 0.06
- MetaSVM -0.73
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Amish population (allele frequency 0.17)
- Structural context available