R14Q (p.Arg14Gln) variant of FBXW7 (Q969H0)
R14Q (p.Arg14Gln) in FBXW7 (Q969H0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs200698994
- cosmic curated COSV55903
- ESP rs200698994
- ExAC rs200698994
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.08
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available