A3P (p.Ala3Pro) variant of NF1 (Neurofibromin)
A3P (p.Ala3Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- Ensembl rs1598173770
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available