S53R (p.Ser53Arg) variant of CAV3 (Caveolin-3)
S53R (p.Ser53Arg) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- rs116840794
- ClinGen CA351663192
- ClinVar RCV003648732
- ClinVar RCV006449171
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance (in RMD2)
- UniProt: Uncertain significance (in RMD2)
- 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)