L42Q (p.Leu42Gln) variant of KCNE1 (P15382)
L42Q (p.Leu42Gln) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L42Q (p.Leu42Gln) variant details
- p.Leu42Gln
- gnomAD 21-34449510-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 0.967
- Literature evidence available