C19R (p.Cys19Arg) variant of CAV3 (Caveolin-3)
C19R (p.Cys19Arg) in CAV3 (Caveolin-3) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C19R (p.Cys19Arg) variant details
- p.Cys19Arg
- rs760170984
- ClinGen CA2236281
- ClinVar RCV001343155
- ClinVar RCV002350626
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.54
- CADD 22.30
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- 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)