R24W (p.Arg24Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R24W (p.Arg24Trp) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs990778345
- ClinGen CA216292541
- ClinVar RCV001216896
- ClinVar RCV002365980
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.96
- MetaSVM 0.99
- CADD 24.40
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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)