H18R (p.His18Arg) variant of CAV3 (Caveolin-3)
H18R (p.His18Arg) 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 0.45 / 1. The record also includes published literature and structural context.
H18R (p.His18Arg) variant details
- p.His18Arg
- rs730880424
- ClinGen CA295959
- ClinVar RCV000157845
- ClinVar RCV001850195
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.46
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Uncertain significance (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)