K47E (p.Lys47Glu) variant of KCNJ11 (Q14654)
K47E (p.Lys47Glu) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD 11-17387953-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available