E30K (p.Glu30Lys) variant of FBXW7 (Q969H0)
E30K (p.Glu30Lys) in FBXW7 (Q969H0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- 1000Genomes rs535906025
- ExAC rs535906025
- gnomAD rs535906025
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available