L273V (p.Leu273Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L273V (p.Leu273Val) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L273V (p.Leu273Val) variant details
- p.Leu273Val
- rs120074180
- ClinGen CA379131380
- ClinVar RCV002671553
- ClinVar RCV004765548
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.14
- CADD 24.70
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)