E19V (p.Glu19Val) variant of NF1 (Neurofibromin)
E19V (p.Glu19Val) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- Ensembl rs1911558602
- Uncertain significance
- Missense
- MetaLR 0.06
- MetaSVM -1.16
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available