E11E (p.Glu11Glu) variant of KCNJ11 (Q14654)
E11E (p.Glu11Glu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- rs2133381079
- gnomAD 11-17388059-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available