E10K (p.Glu10Lys) variant of CAV3 (Caveolin-3)
E10K (p.Glu10Lys) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs139786391
- ClinGen CA295956
- cosmic curated COSV59561
- ClinVar RCV000157844
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.65
- MetaSVM 0.10
- CADD 23.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- 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)