E51K (p.Glu51Lys) variant of KCNJ11 (Q14654)
E51K (p.Glu51Lys) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- gnomAD 11-17387941-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.79
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available