M1L (p.Met1Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
M1L (p.Met1Leu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) 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 0.70 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs199473441
- ClinGen CA350383
- ClinVar RCV000206337
- Pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- ESM-1b 0.77
- AlphaMissense 0.21
- MetaLR 0.89
- MetaSVM 0.84
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic (Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- 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)