E10E (p.Glu10Glu) variant of KCNJ11 (Q14654)
E10E (p.Glu10Glu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- rs2133381087
- gnomAD 11-17388062-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available