C18Y (p.Cys18Tyr) variant of CHEK2 (O96017)
C18Y (p.Cys18Tyr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- rs151218932
- ClinGen CA10168081
- ClinVar RCV001209652
- ClinVar RCV002348683
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.17
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.48
- CADD 4.23
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)