L56V (p.Leu56Val) variant of KCNJ11 (Q14654)
L56V (p.Leu56Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- gnomAD 11-17387926-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.83
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available