S1279R (p.Ser1279Arg) variant of NF1 (Neurofibromin)
S1279R (p.Ser1279Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The record also includes structural context.
S1279R (p.Ser1279Arg) variant details
- p.Ser1279Arg
- Ensembl rs2151438004
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- UniProt: Likely pathogenic
- Structural context available