D518N (p.Asp518Asn) variant of COMP (P49747)
D518N (p.Asp518Asn) 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; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D518N (p.Asp518Asn) variant details
- p.Asp518Asn
- rs1359984033
- ClinGen CA404883301
- ClinVar RCV003050532
- UniProt VAR 007639
- Pathogenic/Likely pathogenic
- not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple epiphyseal dysplasia type 1; Pseudoachond)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple… (PMID 9921895)
- Cited in: Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes… (PMID 10852928)