S18F (p.Ser18Phe) variant of FBXW7 (Q969H0)
S18F (p.Ser18Phe) in FBXW7 (Q969H0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- ExAC rs778748560
- TOPMed rs778748560
- gnomAD rs778748560
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.18
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available