V41L (p.Val41Leu) variant of KCNE2 (Q9Y6J6)
V41L (p.Val41Leu) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- rs1979536230
- gnomAD 21-34370593-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available