R297G (p.Arg297Gly) variant of STK11 (Q15831)
R297G (p.Arg297Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R297G (p.Arg297Gly) variant details
- p.Arg297Gly
- rs730881978
- ClinGen CA023325
- ClinVar RCV004437823
- TOPMed rs730881978
- Likely pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.92
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome)
- EBI: Likely pathogenic (in PJS)
- UniProt: Likely pathogenic (in PJS)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)