E63E (p.Glu63Glu) variant of KCNJ3 (P48549)
E63E (p.Glu63Glu) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E63E (p.Glu63Glu) variant details
- p.Glu63Glu
- rs750265589
- gnomAD 2-154698964-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 10.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available