R174L (p.Arg174Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R174L (p.Arg174Leu) 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 Long QT syndrome; not provided; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R174L (p.Arg174Leu) variant details
- p.Arg174Leu
- rs199472697
- ClinGen CA007345
- ClinVar RCV000182080
- ClinVar RCV001852299
- Pathogenic/Likely pathogenic
- Long QT syndrome; not provided; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; not provided; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- 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)