E51E (p.Glu51Glu) variant of KCNJ11 (Q14654)
E51E (p.Glu51Glu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- gnomAD 11-17387939-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available