L45L (p.Leu45Leu) variant of KCNE1 (P15382)
L45L (p.Leu45Leu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- gnomAD 21-34449500-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 9.93
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Literature evidence available