D18A (p.Asp18Ala) variant of NF1 (Neurofibromin)
D18A (p.Asp18Ala) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D18A (p.Asp18Ala) variant details
- p.Asp18Ala
- Ensembl rs2143145636
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available