M1L (p.Met1Leu) variant of KCNE1 (P15382)
M1L (p.Met1Leu) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2123460074
- ClinGen CA410198669
- ClinVar RCV001376771
- ClinVar RCV004779113
- Pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.55
- MetaSVM -0.22
- MutPred 0.98
- ClinVar: Pathogenic (Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 0.241
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)