P296R (p.Pro296Arg) variant of COMP (P49747)
P296R (p.Pro296Arg) 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 0.89 / 1. The record also includes published literature and structural context.
P296R (p.Pro296Arg) variant details
- p.Pro296Arg
- rs1601057167
- ClinGen CA404891648
- ClinVar RCV000853323
- Ensembl rs1601057167
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)