D290G (p.Asp290Gly) variant of COMP (P49747)
D290G (p.Asp290Gly) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D290G (p.Asp290Gly) variant details
- p.Asp290Gly
- rs1568556118
- ClinGen CA404891877
- ClinVar RCV000730702
- ClinVar RCV006646145
- Conflicting interpretations
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes… (PMID 10852928)