L13V (p.Leu13Val) variant of KCNE1 (P15382)
L13V (p.Leu13Val) in KCNE1 (P15382) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- Ensembl rs919327457
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.4