D437N (p.Asp437Asn) variant of COMP (P49747)
D437N (p.Asp437Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D437N (p.Asp437Asn) variant details
- p.Asp437Asn
- rs2055165476
- ClinGen CA404885378
- cosmic curated COSV55873
- ClinVar RCV001250923
- Likely pathogenic
- not provided; Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondy
- 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: Likely pathogenic (not provided; Multiple epiphyseal dysplasia type 1; Pseudoachond)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)