D482V (p.Asp482Val) variant of COMP (P49747)
D482V (p.Asp482Val) 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.
D482V (p.Asp482Val) variant details
- p.Asp482Val
- rs2055164276
- ClinGen CA404884323
- ClinVar RCV001250922
- Ensembl rs2055164276
- Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome)
- EBI: Likely pathogenic (in PSACH)
- UniProt: Likely pathogenic (in PSACH)
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)