V14L (p.Val14Leu) variant of CAV3 (Caveolin-3)
V14L (p.Val14Leu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- rs121909281
- ClinGen CA215224
- ClinVar RCV000008793
- ClinVar RCV000024433
- Pathogenic
- Long QT syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.41
- MetaSVM -0.63
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Pathogenic (Long QT syndrome 9)
- EBI: Pathogenic (in SIDS)
- UniProt: Pathogenic (in SIDS)
- Population evidence available
- Structural context available
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)
- Cited in: Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. (PMID 17275750)