S19* (p.Ser19Ter) variant of CHEK2 (O96017)
S19* (p.Ser19Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S19* (p.Ser19Ter) variant details
- p.Ser19Ter
- rs1555932877
- cosmic curated COSV60421
- ClinGen CA411091826
- ClinVar RCV000562079
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 31.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)