Q27R (p.Gln27Arg) variant of CHEK2 (O96017)
Q27R (p.Gln27Arg) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs1060502697
- ClinGen CA411091636
- ClinVar RCV000802148
- ClinVar RCV004028093
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.27
- AlphaMissense 0.06
- MetaLR 0.79
- MetaSVM 0.31
- CADD 23.20
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)