G309R (p.Gly309Arg) variant of COMP (P49747)
G309R (p.Gly309Arg) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G309R (p.Gly309Arg) variant details
- p.Gly309Arg
- rs2145903203
- ClinGen CA404891243
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55875
- Pathogenic/Likely pathogenic
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COMP-Related Pseudoachondroplasia. (PMID 20301660)