P29S (p.Pro29Ser) variant of CAV3 (Caveolin-3)
P29S (p.Pro29Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- rs116840785
- ClinGen CA351661508
- ClinVar RCV000631571
- Ensembl rs116840785
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in HYPCK)
- UniProt: Uncertain significance (in HYPCK)
- 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)