D376N (p.Asp376Asn) variant of COMP (P49747)
D376N (p.Asp376Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 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.
D376N (p.Asp376Asn) variant details
- p.Asp376Asn
- rs1555791556
- ClinGen CA404887730
- ClinVar RCV002221407
- UniProt VAR 066802
- Pathogenic/Likely pathogenic
- COMP-related disorder; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (COMP-related disorder; Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect… (PMID 11084047)