G15S (p.Gly15Ser) variant of STK11 (Q15831)
G15S (p.Gly15Ser) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs1060499970
- ClinGen CA16616212
- cosmic curated COSV58827
- ClinVar RCV000471272
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.07
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -0.98
- CADD 21.80
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)