Q27E (p.Gln27Glu) variant of CHEK2 (O96017)
Q27E (p.Gln27Glu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- rs376736188
- ClinGen CA322998866
- ClinVar RCV000509464
- ClinVar RCV000522986
- Uncertain significance
- not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.30
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial cancer of breast; Hereditary cancer-predi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)