E51A (p.Glu51Ala) variant of KCNJ11 (Q14654)
E51A (p.Glu51Ala) in KCNJ11 (Q14654) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E51A (p.Glu51Ala) variant details
- p.Glu51Ala
- rs1953591118
- gnomAD 11-17387933-GCCCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 32.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available