R35H (p.Arg35His) variant of FBXW7 (Q969H0)
R35H (p.Arg35His) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R35H (p.Arg35His) variant details
- p.Arg35His
- cosmic curated COSV55903
- 1000Genomes rs199629238
- ExAC rs199629238
- TOPMed rs199629238
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available