D290Y (p.Asp290Tyr) variant of COMP (P49747)
D290Y (p.Asp290Tyr) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D290Y (p.Asp290Tyr) variant details
- p.Asp290Tyr
- rs2145903266
- ClinGen CA404891887
- cosmic curated COSV55874
- ClinVar RCV002227954
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Pathogenic (in PSACH)
- UniProt: Pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)