A2G (p.Ala2Gly) variant of NF1 (Neurofibromin)
A2G (p.Ala2Gly) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- Ensembl rs1555594473
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available