C468S (p.Cys468Ser) variant of COMP (P49747)
C468S (p.Cys468Ser) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C468S (p.Cys468Ser) variant details
- p.Cys468Ser
- rs137852651
- ClinGen CA404884657
- ClinVar RCV001270873
- Ensembl rs137852651
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)