E19A (p.Glu19Ala) variant of NF1 (Neurofibromin)
E19A (p.Glu19Ala) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
E19A (p.Glu19Ala) variant details
- p.Glu19Ala
- rs1911558602
- ClinGen CA398979418
- ClinVar RCV001341497
- Ensembl rs1911558602
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.36
- MetaLR 0.06
- MetaSVM -1.17
- PolyPhen-2 0.36
- SIFT 0.05
- EVE 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)