D439N (p.Asp439Asn) variant of COMP (P49747)
D439N (p.Asp439Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D439N (p.Asp439Asn) variant details
- p.Asp439Asn
- rs1601054002
- ClinGen CA404885325
- ClinVar RCV000853301
- Ensembl rs1601054002
- Likely pathogenic
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)