R689Q (p.Arg689Gln) variant of FBXW7 (Q969H0)
R689Q (p.Arg689Gln) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental delay, hypotonia, and impaired language. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R689Q (p.Arg689Gln) variant details
- p.Arg689Gln
- rs2126459625
- ClinGen CA358616877
- NCI-TCGA Cosmic COSV5590
- cosmic curated COSV55900
- Pathogenic
- Developmental delay, hypotonia, and impaired language
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.44
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental delay, hypotonia, and impaired language)
- EBI: Pathogenic (in DEDHIL)
- UniProt: Pathogenic (in DEDHIL)
- Population evidence available
- Structural context available
- Cited in: Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. (PMID 35395208)