W58G (p.Trp58Gly) variant of CAV3 (Caveolin-3)
W58G (p.Trp58Gly) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W58G (p.Trp58Gly) variant details
- p.Trp58Gly
- rs199476330
- ClinGen CA16611550
- ClinVar RCV000469969
- gnomAD rs199476330
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)