C132R (p.Cys132Arg) variant of STK11 (Q15831)
C132R (p.Cys132Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C132R (p.Cys132Arg) variant details
- p.Cys132Arg
- rs2080765290
- ClinGen CA402948154
- ClinVar RCV001056706
- Ensembl rs2080765290
- Likely pathogenic
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.90
- MetaLR 0.70
- MetaSVM 0.42
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)