L11W (p.Leu11Trp) variant of KCNE2 (Q9Y6J6)
L11W (p.Leu11Trp) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L11W (p.Leu11Trp) variant details
- p.Leu11Trp
- gnomAD 21-34370507-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available