D30E (p.Asp30Glu) variant of STK11 (Q15831)
D30E (p.Asp30Glu) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- rs771765869
- ClinGen CA049487
- ClinVar RCV000572006
- ClinVar RCV001809609
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.83
- MetaLR 0.53
- MetaSVM -0.06
- PolyPhen-2 0.64
- SIFT 0.04
- EVE 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)