V37A (p.Val37Ala) variant of CAV3 (Caveolin-3)
V37A (p.Val37Ala) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- rs886039060
- ClinGen CA10587580
- ClinVar RCV000248487
- ClinVar RCV003532075
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.85
- MetaSVM 0.88
- CADD 27.90
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)