D43V (p.Asp43Val) variant of CAV3 (Caveolin-3)
D43V (p.Asp43Val) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- rs1559654264
- ClinGen CA351663142
- ClinVar RCV000702459
- ClinVar RCV004777849
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)