D28E (p.Asp28Glu) variant of CAV3 (Caveolin-3)
D28E (p.Asp28Glu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- rs116840782
- ClinGen CA351661502
- ClinVar RCV001289359
- UniProt VAR 015374
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available
- Cited in: Consequences of a novel caveolin-3 mutation in a large German family. (PMID 12557291)
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)