D472Y (p.Asp472Tyr) variant of COMP (P49747)
D472Y (p.Asp472Tyr) 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.
D472Y (p.Asp472Tyr) variant details
- p.Asp472Tyr
- rs137852650
- ClinGen CA254700
- ClinVar RCV000009761
- UniProt VAR 007634
- Pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.09
- 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: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. (PMID 7670471)
- Cited in: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple… (PMID 9452026)