G15D (p.Gly15Asp) variant of STK11 (Q15831)
G15D (p.Gly15Asp) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- rs1458974438
- ClinGen CA402943230
- ClinVar RCV000533697
- ClinVar RCV002330840
- Uncertain significance
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.98
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)