L3M (p.Leu3Met) variant of KCNE1 (P15382)
L3M (p.Leu3Met) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- cosmic curated COSV10967
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.12
- Structural context available
- Functional MAVE scores for KCNE1: score 1.24