L51L (p.Leu51Leu) variant of KCNE2 (Q9Y6J6)
L51L (p.Leu51Leu) in KCNE2 (Q9Y6J6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- rs143767851
- gnomAD 21-34370631-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 8.38
- Most common in the Amish population (allele frequency 0.03)
- Structural context available
- Literature evidence available