V36E (p.Val36Glu) variant of KCNJ11 (Q14654)
V36E (p.Val36Glu) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V36E (p.Val36Glu) variant details
- p.Val36Glu
- gnomAD 11-17387985-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available