G404R (p.Gly404Arg) variant of COMP (P49747)
G404R (p.Gly404Arg) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
G404R (p.Gly404Arg) variant details
- p.Gly404Arg
- rs2055168912
- ClinGen CA404886564
- ClinVar RCV001293718
- UniProt VAR 066810
- Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect… (PMID 11084047)