P29H (p.Pro29His) variant of CAV3 (Caveolin-3)
P29H (p.Pro29His) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P29H (p.Pro29His) variant details
- p.Pro29His
- rs116840786
- ClinGen CA69861907
- cosmic curated COSV10066
- ClinVar RCV001956691
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.91
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.07
- CADD 27.30
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic (in HYPCK)
- UniProt: Pathogenic (in HYPCK)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)