W308C (p.Trp308Cys) variant of STK11 (Q15831)
W308C (p.Trp308Cys) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Peutz-Jeghers 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.
W308C (p.Trp308Cys) variant details
- p.Trp308Cys
- rs1057520042
- NCI-TCGA Cosmic COSV5882
- Ensembl rs1057520042
- Pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Peutz-Jeghers syndrome)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- Population evidence available
- Structural context available
- Cited in: Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. (PMID 9837816)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)