R13* (p.Arg13Ter) variant of FBXW7 (Q969H0)
R13* (p.Arg13Ter) in FBXW7 (Q969H0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R13* (p.Arg13Ter) variant details
- p.Arg13Ter
- rs781123562
- ClinGen CA108595474
- NCI-TCGA Cosmic COSV5591
- cosmic curated COSV55916
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available