L24P (p.Leu24Pro) variant of CAV3 (Caveolin-3)
L24P (p.Leu24Pro) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- rs1707653769
- ClinGen CA351661452
- ClinVar RCV001341588
- Ensembl rs1707653769
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.92
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.99
- CADD 32.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)