E34K (p.Glu34Lys) variant of CAV3 (Caveolin-3)
E34K (p.Glu34Lys) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CAV3-related disorder; Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs199476325
- ClinGen CA215184
- cosmic curated COSV59562
- ClinVar RCV000024415
- Conflicting interpretations
- CAV3-related disorder; Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.64
- MetaSVM 0.08
- CADD 23.90
- ClinVar: Conflicting classifications of pathogenicity (CAV3-related disorder; Cardiovascular phenotype; Long QT syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)