V36A (p.Val36Ala) variant of KCNJ11 (Q14654)
V36A (p.Val36Ala) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- gnomAD 11-17387985-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available