T585R (p.Thr585Arg) variant of COMP (P49747)
T585R (p.Thr585Arg) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1; Pseudoachondropl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
T585R (p.Thr585Arg) variant details
- p.Thr585Arg
- rs312262900
- ClinGen CA343860
- ClinVar RCV000033886
- ClinVar RCV002054552
- Pathogenic
- Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1; Pseudoachondropl
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Carpal tunnel syndrome 2; Multiple epiphyseal dysplasia type 1;)
- EBI: Pathogenic (in EDM1 and PSACH)
- UniProt: Pathogenic (in EDM1 and PSACH)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal… (PMID 9463320)