R297S (p.Arg297Ser) variant of STK11 (Q15831)
R297S (p.Arg297Ser) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R297S (p.Arg297Ser) variant details
- p.Arg297Ser
- rs730881984
- ClinGen CA023329
- NCI-TCGA Cosmic COSV5882
- cosmic curated COSV58820
- Pathogenic/Likely pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Peutz-Jeghers syndrome)
- EBI: Pathogenic (in PJS)
- UniProt: Pathogenic (in PJS)
- 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)