D376Y (p.Asp376Tyr) variant of COMP (P49747)
D376Y (p.Asp376Tyr) 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; Pseudoachondroplastic spondyloepiphyseal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D376Y (p.Asp376Tyr) variant details
- p.Asp376Tyr
- rs1555791556
- ClinGen CA404887723
- ClinVar RCV000505823
- Ensembl rs1555791556
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spon)
- EBI: Pathogenic (in EDM1)
- UniProt: Pathogenic (in EDM1)
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)