Q11H (p.Gln11His) variant of CHEK2 (O96017)
Q11H (p.Gln11His) 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; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs2146155849
- ClinGen CA411091979
- ClinVar RCV002452055
- ClinVar RCV003102365
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.10
- PolyPhen-2 0.41
- SIFT 0.01
- MutPred 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- 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)