E51S (p.Glu51Ser) variant of KCNJ11 (Q14654)
E51S (p.Glu51Ser) in KCNJ11 (Q14654) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E51S (p.Glu51Ser) variant details
- p.Glu51Ser
- rs1313986273
- gnomAD 11-17387940-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available