C468F (p.Cys468Phe) variant of COMP (P49747)
C468F (p.Cys468Phe) 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; Abnormality of the. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C468F (p.Cys468Phe) variant details
- p.Cys468Phe
- rs137852651
- ClinGen CA404884655
- ClinVar RCV001814443
- ClinVar RCV006646176
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Abnormality of the
- 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: Pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Abn)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)