D439G (p.Asp439Gly) variant of COMP (P49747)
D439G (p.Asp439Gly) 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; COMP-related disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
D439G (p.Asp439Gly) variant details
- p.Asp439Gly
- rs2512847668
- ClinGen CA404885300
- ClinVar RCV003153166
- Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; COMP-related disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; COM)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)