D437Y (p.Asp437Tyr) variant of COMP (P49747)
D437Y (p.Asp437Tyr) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D437Y (p.Asp437Tyr) variant details
- p.Asp437Tyr
- rs2055165476
- ClinGen CA404885371
- ClinVar RCV001364544
- ClinVar RCV002242574
- Conflicting interpretations
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)