C19Y (p.Cys19Tyr) variant of CAV3 (Caveolin-3)
C19Y (p.Cys19Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- rs963028152
- ClinGen CA69861890
- ClinVar RCV000806621
- gnomAD rs963028152
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.34
- MetaSVM -0.69
- CADD 3.89
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)