E43G (p.Glu43Gly) variant of KCNE1 (P15382)
E43G (p.Glu43Gly) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes experimental measurements and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- Ensembl rs1981021182
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.28
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.01