C292R (p.Cys292Arg) variant of COMP (P49747)
C292R (p.Cys292Arg) 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; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C292R (p.Cys292Arg) variant details
- p.Cys292Arg
- rs2055184939
- ClinGen CA404891824
- ClinVar RCV001250925
- ClinVar RCV001383286
- Pathogenic/Likely pathogenic
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)