Y390S (p.Tyr390Ser) variant of CHEK2 (O96017)
Y390S (p.Tyr390Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Premature ovarian failure; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y390S (p.Tyr390Ser) variant details
- p.Tyr390Ser
- rs200928781
- ClinGen CA166521
- ClinVar RCV000130486
- ClinVar RCV000206869
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Premature ovarian failure; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.87
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Premature ovarian failu)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)