G167E (p.Gly167Glu) variant of CHEK2 (O96017)
G167E (p.Gly167Glu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G167E (p.Gly167Glu) variant details
- p.Gly167Glu
- rs144850845
- ClinGen CA288314
- cosmic curated COSV10942
- ClinVar RCV000116021
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance (in prostate cancer)
- UniProt: Uncertain significance (in prostate cancer)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)