L13L (p.Leu13Leu) variant of KCNE1 (P15382)
L13L (p.Leu13Leu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 21-34449596-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 8.99
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.4
- Literature evidence available