L42M (p.Leu42Met) variant of KCNE1 (P15382)
L42M (p.Leu42Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42M (p.Leu42Met) variant details
- p.Leu42Met
- gnomAD 21-34449511-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 11.00
- PolyPhen-2 0.17
- SIFT 0.20
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 0.967
- Literature evidence available