L16L (p.Leu16Leu) variant of KCNE1 (P15382)
L16L (p.Leu16Leu) in KCNE1 (P15382) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- gnomAD 21-34449587-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 10.30
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.25
- Literature evidence available