C19* (p.Cys19Ter) variant of CAV3 (Caveolin-3)

Name: CAV3 C19* (p.Cys19Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

C19* (p.Cys19Ter) in CAV3 (Caveolin-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.

C19* (p.Cys19Ter) variant details

p.Cys19Ter
rs1182984115
ClinGen CA351661381
ClinVar RCV001222783
ClinVar RCV001509209
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.853
CADD 37.00
EBI: Pathogenic
UniProt: Pathogenic
Most common in the Non-Finnish European population (allele frequency 9e-07)
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)