Q10* (p.Gln10Ter) variant of CHEK2 (O96017)
Q10* (p.Gln10Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs1064793817
- ClinGen CA16621086
- cosmic curated COSV60418
- ClinVar RCV000480175
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)