G719D (p.Gly719Asp) variant of COMP (P49747)
G719D (p.Gly719Asp) 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 0.95 / 1. The record also includes published literature and structural context.
G719D (p.Gly719Asp) variant details
- p.Gly719Asp
- rs137852655
- ClinGen CA120170
- ClinVar RCV000009772
- ClinVar RCV000033890
- Pathogenic/Likely pathogenic
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Multi
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (PMID 11746044)
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)