R674W (p.Arg674Trp) variant of FBXW7 (Q969H0)
R674W (p.Arg674Trp) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Developmental delay, hypotonia, and impaired language. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
R674W (p.Arg674Trp) variant details
- p.Arg674Trp
- rs140856583
- ClinGen CA108586144
- cosmic curated COSV55906
- ClinVar RCV002279909
- Pathogenic
- not provided; Developmental delay, hypotonia, and impaired language
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 1.00
- MetaLR 0.15
- MetaSVM -0.78
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.55
- ClinVar: Pathogenic (not provided; Developmental delay, hypotonia, and impaired langu)
- 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)