R145W (p.Arg145Trp) variant of CHEK2 (O96017)
R145W (p.Arg145Trp) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHEK2-related disorder; Breast and/or ovarian cancer; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R145W (p.Arg145Trp) variant details
- p.Arg145Trp
- rs137853007
- ClinGen CA117632
- cosmic curated COSV60416
- ClinVar RCV000005940
- Likely pathogenic
- CHEK2-related disorder; Breast and/or ovarian cancer; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.81
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (CHEK2-related disorder; Breast and/or ovarian cancer; Hereditary)
- EBI: Pathogenic (in TPDS4)
- UniProt: Pathogenic (in TPDS4)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. (PMID 10617473)
- Cited in: The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. (PMID 11298456)