Q27P (p.Gln27Pro) variant of CHEK2 (O96017)
Q27P (p.Gln27Pro) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast and/or ovarian cancer; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Q27P (p.Gln27Pro) variant details
- p.Gln27Pro
- rs1060502697
- ClinGen CA16616579
- ClinVar RCV000470117
- ClinVar RCV000584612
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast and/or ovarian cancer; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.06
- MetaLR 0.79
- MetaSVM 0.31
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast and/or ovarian c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)