E63E (p.Glu63Glu) variant of KCNJ2 (P63252)
E63E (p.Glu63Glu) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E63E (p.Glu63Glu) variant details
- p.Glu63Glu
- gnomAD 17-70175228-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 8.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available