D23E (p.Asp23Glu) variant of STK11 (Q15831)
D23E (p.Asp23Glu) 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 0.47 / 1. The record also includes published literature and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- rs1599914867
- ClinGen CA402943473
- ClinVar RCV001025894
- ClinVar RCV001284358
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.41
- MetaLR 0.52
- MetaSVM -0.22
- PolyPhen-2 0.89
- SIFT 0.02
- EVE 0.15
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)