K11E (p.Lys11Glu) variant of FBXW7 (Q969H0)
K11E (p.Lys11Glu) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- rs1737990894
- ClinGen CA358620849
- ClinVar RCV003404806
- TOPMed rs1737990894
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available