H64H (p.His64His) variant of KCNJ5 (P48544)
H64H (p.His64His) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H64H (p.His64His) variant details
- p.His64His
- rs140848236
- gnomAD 11-128911465-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.13
- Most common in the 1KG:ASW population (allele frequency 0.02)
- Structural context available
- Literature evidence available