W239C (p.Trp239Cys) variant of STK11 (Q15831)
W239C (p.Trp239Cys) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided. The record also includes published literature and structural context.
W239C (p.Trp239Cys) variant details
- p.Trp239Cys
- rs137853082
- ClinGen CA023239
- ClinVar RCV000007884
- Ensembl rs137853082
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Structural context available
- Cited in: Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome… (PMID 12372054)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)