L2L (p.Leu2Leu) variant of KCNJ11 (Q14654)
L2L (p.Leu2Leu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L2L (p.Leu2Leu) variant details
- p.Leu2Leu
- gnomAD 11-17388088-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available