Q20* (p.Gln20Ter) variant of CHEK2 (O96017)
Q20* (p.Gln20Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs536907995
- ClinGen CA158093
- ClinVar RCV000120552
- ClinVar RCV000255024
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. (PMID 26389210)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)