D273V (p.Asp273Val) variant of COMP (P49747)
D273V (p.Asp273Val) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
D273V (p.Asp273Val) variant details
- p.Asp273Val
- rs1601057491
- ClinGen CA404892660
- ClinVar RCV000990191
- Ensembl rs1601057491
- Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)