S18C (p.Ser18Cys) variant of FBXW7 (Q969H0)
S18C (p.Ser18Cys) in FBXW7 (Q969H0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- ExAC rs778748560
- TOPMed rs778748560
- gnomAD rs778748560
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available