E8* (p.Glu8Ter) variant of CHEK2 (O96017)
E8* (p.Glu8Ter) in CHEK2 (O96017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- rs2146156469
- ClinGen CA411092052
- cosmic curated COSV60422
- ClinVar RCV003335694
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM -0.16
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.22
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)