Q20E (p.Gln20Glu) variant of NF1 (Neurofibromin)
Q20E (p.Gln20Glu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q20E (p.Gln20Glu) variant details
- p.Gln20Glu
- rs1567786905
- ClinGen CA398979430
- ClinVar RCV001227828
- ClinVar RCV002356968
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)