L13* (p.Leu13Ter) variant of KCNE1 (P15382)
L13* (p.Leu13Ter) in KCNE1 (P15382) is a protein-truncating change. The record also includes experimental measurements and structural context.
L13* (p.Leu13Ter) variant details
- p.Leu13Ter
- cosmic curated COSV61607
- Stop Gained
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.4