R718W (p.Arg718Trp) variant of COMP (P49747)
R718W (p.Arg718Trp) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COMP-related disorder; not provided; Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R718W (p.Arg718Trp) variant details
- p.Arg718Trp
- rs28936368
- ClinGen CA340882
- ClinVar RCV000009776
- ClinVar RCV001268837
- Pathogenic/Likely pathogenic
- COMP-related disorder; not provided; Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (COMP-related disorder; not provided; Multiple epiphyseal dysplas)
- EBI: Pathogenic (in EDM1 and CTS2)
- UniProt: Pathogenic (in EDM1 and CTS2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal… (PMID 12483304)
- Cited in: A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and… (PMID 14684695)