E47K (p.Glu47Lys) variant of CAV3 (Caveolin-3)
E47K (p.Glu47Lys) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; CAV3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs116840793
- ClinGen CA119449
- ClinVar RCV000008787
- ClinVar RCV000024416
- Conflicting interpretations
- not provided; CAV3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; CAV3-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)
- Cited in: Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. (PMID 16247063)