H64D (p.His64Asp) variant of KCNJ5 (P48544)
H64D (p.His64Asp) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
H64D (p.His64Asp) variant details
- p.His64Asp
- ExAC rs764402583
- gnomAD rs764402583
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.93
- MetaLR 0.90
- MetaSVM 0.99
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available