D473G (p.Asp473Gly) variant of COMP (P49747)
D473G (p.Asp473Gly) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D473G (p.Asp473Gly) variant details
- p.Asp473Gly
- rs28936669
- ClinGen CA120169
- ClinVar RCV000009769
- UniProt VAR 007635
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.90
- 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 with de novo deletion [del(11)(q21q22.2)]. (PMID 9632164)
- Cited in: Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple… (PMID 9921895)