C328R (p.Cys328Arg) variant of COMP (P49747)
C328R (p.Cys328Arg) 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 0.93 / 1. The record also includes published literature and structural context.
C328R (p.Cys328Arg) variant details
- p.Cys328Arg
- rs137852653
- ClinGen CA254702
- ClinVar RCV000009766
- UniProt VAR 007616
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 0.93
- 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 due to mutations in the cartilage oligomeric matrix protein gene. (PMID 7670472)
- Cited in: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple… (PMID 9452026)