D385Y (p.Asp385Tyr) variant of COMP (P49747)
D385Y (p.Asp385Tyr) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
D385Y (p.Asp385Tyr) variant details
- p.Asp385Tyr
- rs1601054715
- ClinGen CA404887162
- ClinVar RCV000995526
- UniProt VAR 066805
- Pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes… (PMID 21922596)
- Cited in: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect… (PMID 11084047)