R3W (p.Arg3Trp) variant of CHEK2 (O96017)
R3W (p.Arg3Trp) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Breast and/or ovarian cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs199708878
- ClinGen CA294322
- cosmic curated COSV60424
- ClinVar RCV000131200
- Conflicting interpretations
- Hereditary cancer; Breast and/or ovarian cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.32
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Breast and/or ovarian cancer; Hereditary canc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. (PMID 26389210)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)