R13Q (p.Arg13Gln) variant of FBXW7 (Q969H0)
R13Q (p.Arg13Gln) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- TOPMed rs1471232420
- gnomAD rs1471232420
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.25
- CADD 27.00
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available