L42L (p.Leu42Leu) variant of KCNE1 (P15382)
L42L (p.Leu42Leu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- gnomAD 21-34449509-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.48
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 0.967
- Literature evidence available