Q34* (p.Gln34Ter) variant of CHEK2 (O96017)
Q34* (p.Gln34Ter) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- rs1231012263
- ClinGen CA411091502
- ClinVar RCV000584578
- ClinVar RCV000778091
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM 0.14
- CADD 36.00
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)