Q11E (p.Gln11Glu) variant of CHEK2 (O96017)
Q11E (p.Gln11Glu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
Q11E (p.Gln11Glu) variant details
- p.Gln11Glu
- rs1349961118
- ClinGen CA411091993
- ClinVar RCV000635955
- gnomAD rs1349961118
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.42
- PolyPhen-2 0.02
- SIFT 0.20
- MutPred 0.10
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)