Q20R (p.Gln20Arg) variant of CHEK2 (O96017)
Q20R (p.Gln20Arg) 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; Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- rs753257724
- ClinGen CA10168080
- ClinVar RCV000218111
- ClinVar RCV000476107
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)