R366L (p.Arg366Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R366L (p.Arg366Leu) 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/likely pathogenic in the context of not provided; Cardiac arrhythmia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R366L (p.Arg366Leu) variant details
- p.Arg366Leu
- rs199473410
- ClinGen CA379133861
- ClinVar RCV001544877
- ClinVar RCV002032550
- Pathogenic/Likely pathogenic
- not provided; Cardiac arrhythmia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiac arrhythmia; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- 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)