G299R (p.Gly299Arg) variant of COMP (P49747)
G299R (p.Gly299Arg) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
G299R (p.Gly299Arg) variant details
- p.Gly299Arg
- rs2145903238
- ClinGen CA404891559
- ClinVar RCV001875035
- ClinVar RCV005253917
- Pathogenic
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- 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)