G167R (p.Gly167Arg) variant of CHEK2 (O96017)
G167R (p.Gly167Arg) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G167R (p.Gly167Arg) variant details
- p.Gly167Arg
- rs72552322
- ClinGen CA411107461
- ClinVar RCV003336904
- UniProt VAR 019109
- Likely pathogenic
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Pathogenic (in prostate cancer)
- UniProt: Pathogenic (in prostate cancer)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Mutations in CHEK2 associated with prostate cancer risk. (PMID 12533788)
- Cited in: Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. (PMID 26389210)