D269G (p.Asp269Gly) variant of COMP (P49747)
D269G (p.Asp269Gly) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D269G (p.Asp269Gly) variant details
- p.Asp269Gly
- rs2145903433
- ClinGen CA404892783
- ClinVar RCV001901791
- ClinVar RCV005868440
- Pathogenic/Likely pathogenic
- not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pseudoachondroplastic spondyloepiphyseal dysplasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)