S5* (p.Ser5Ter) variant of CHEK2 (O96017)
S5* (p.Ser5Ter) 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 0.54 / 1. The record also includes published literature and structural context.
S5* (p.Ser5Ter) variant details
- p.Ser5Ter
- rs201084748
- ClinGen CA411092104
- ClinVar RCV003608106
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.19
- MetaLR 0.65
- MetaSVM -0.07
- PolyPhen-2 0.82
- SIFT 0.01
- MutPred 0.16
- 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)