V37L (p.Val37Leu) variant of CAV3 (Caveolin-3)
V37L (p.Val37Leu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CAV3-related disorder; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- rs374523166
- ClinGen CA223853
- ClinVar RCV000477181
- ClinVar RCV000723742
- Uncertain significance
- CAV3-related disorder; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.53
- MetaLR 0.67
- MetaSVM 0.16
- CADD 23.10
- ClinVar: Uncertain significance (CAV3-related disorder; Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)