R27P (p.Arg27Pro) variant of CAV3 (Caveolin-3)
R27P (p.Arg27Pro) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CAV3-related disorder; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- rs116840778
- ClinGen CA215237
- ClinVar RCV000024438
- ClinVar RCV002513228
- Conflicting interpretations
- CAV3-related disorder; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CAV3-related disorder; Long QT syndrome)
- EBI: Pathogenic (in HYPCK, RMD2 and MPDT)
- UniProt: Pathogenic (in HYPCK, RMD2 and MPDT)
- 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)