R28H (p.Arg28His) variant of STK11 (Q15831)
R28H (p.Arg28His) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs1331020864
- ClinGen CA089442
- ClinVar RCV000792451
- TOPMed rs1331020864
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.65
- MetaLR 0.56
- MetaSVM 0.22
- CADD 26.30
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)