E19G (p.Glu19Gly) variant of NF1 (Neurofibromin)
E19G (p.Glu19Gly) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- cosmic curated COSV99049
- Ensembl rs1911558602
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available