A12G (p.Ala12Gly) variant of NF1 (Neurofibromin)
A12G (p.Ala12Gly) 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.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- Ensembl rs1911554964
- Uncertain significance
- Missense
- MetaLR 0.06
- MetaSVM -1.13
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available