D326N (p.Asp326Asn) variant of COMP (P49747)
D326N (p.Asp326Asn) 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; Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D326N (p.Asp326Asn) variant details
- p.Asp326Asn
- rs2145902345
- ClinGen CA404890558
- ClinVar RCV001806396
- ClinVar RCV002542418
- Pathogenic/Likely pathogenic
- not provided; COMP-related disorder; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; COMP-related disorder; Multiple epiphyseal dysplas)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)