E19K (p.Glu19Lys) variant of NF1 (Neurofibromin)
E19K (p.Glu19Lys) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs786203307
- ClinGen CA398979412
- ClinVar RCV000706302
- ClinVar RCV002343569
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.13
- CADD 25.00
- PolyPhen-2 0.51
- SIFT 0.01
- 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)