Q11* (p.Gln11Ter) variant of CHEK2 (O96017)
Q11* (p.Gln11Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- rs1349961118
- ClinGen CA411091990
- ClinVar RCV000821423
- ClinVar RCV002442757
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.42
- CADD 35.00
- PolyPhen-2 0.02
- SIFT 0.20
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-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)