H64Y (p.His64Tyr) variant of KCNJ5 (P48544)
H64Y (p.His64Tyr) in KCNJ5 (P48544) 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 and structural context.
H64Y (p.His64Tyr) variant details
- p.His64Tyr
- ExAC rs764402583
- gnomAD rs764402583
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.88
- MetaLR 0.89
- MetaSVM 0.97
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available