L13M (p.Leu13Met) variant of KCNE1 (P15382)
L13M (p.Leu13Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- cosmic curated COSV10049
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- ESM-1b 0.00
- AlphaMissense 0.16
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.4