P29L (p.Pro29Leu) variant of CAV3 (Caveolin-3)
P29L (p.Pro29Leu) 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 0.66 / 1. The record also includes published literature and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs116840786
- ClinGen CA215147
- NCI-TCGA Cosmic COSV1006
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic (in HYPCK)
- UniProt: Pathogenic (in HYPCK)
- Structural context available
- Cited in: Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. (PMID 12082049)
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)