R689W (p.Arg689Trp) variant of FBXW7 (Q969H0)
R689W (p.Arg689Trp) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental delay, hypotonia, and impaired language; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
R689W (p.Arg689Trp) variant details
- p.Arg689Trp
- rs2126459661
- ClinGen CA358616878
- NCI-TCGA Cosmic COSV5589
- cosmic curated COSV55895
- Pathogenic/Likely pathogenic
- Developmental delay, hypotonia, and impaired language; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 1.00
- MetaLR 0.13
- MetaSVM -0.98
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.44
- ClinVar: Pathogenic/Likely pathogenic (Developmental delay, hypotonia, and impaired language; not provi)
- EBI: Pathogenic (in DEDHIL)
- UniProt: Pathogenic (in DEDHIL)
- Structural context available
- Cited in: Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. (PMID 35395208)