D439E (p.Asp439Glu) variant of COMP (P49747)
D439E (p.Asp439Glu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; COMP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D439E (p.Asp439Glu) variant details
- p.Asp439Glu
- rs368273443
- ClinGen CA404885281
- ClinVar RCV001377132
- ClinVar RCV003232336
- Pathogenic/Likely pathogenic
- not provided; COMP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; COMP-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)