D1217Y (p.Asp1217Tyr) variant of NF1 (Neurofibromin)
D1217Y (p.Asp1217Tyr) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
D1217Y (p.Asp1217Tyr) variant details
- p.Asp1217Tyr
- Ensembl rs2151435685
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available