L56L (p.Leu56Leu) variant of KCNJ11 (Q14654)
L56L (p.Leu56Leu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs1336022547
- gnomAD 11-17387924-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 8.05
- Population evidence available
- Structural context available
- Literature evidence available