H6L (p.His6Leu) variant of CAV3 (Caveolin-3)
H6L (p.His6Leu) 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; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
H6L (p.His6Leu) variant details
- p.His6Leu
- rs1233979640
- ClinGen CA351661179
- ClinVar RCV001509208
- ClinVar RCV002568006
- Uncertain significance
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)