H46H (p.His46His) variant of KCNJ11 (Q14654)
H46H (p.His46His) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H46H (p.His46His) variant details
- p.His46His
- gnomAD 11-17387954-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 11.10
- Population evidence available
- Structural context available
- Literature evidence available