V44M (p.Val44Met) variant of CAV3 (Caveolin-3)
V44M (p.Val44Met) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs1341523879
- ClinGen CA351663144
- cosmic curated COSV57480
- ClinVar RCV001054902
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance (in RMD2)
- UniProt: Uncertain significance (in RMD2)
- Most common in the East Asian population (allele frequency 2.5e-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)