F1247I (p.Phe1247Ile) variant of NF1 (Neurofibromin)
F1247I (p.Phe1247Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Café-au-lait macules with pulmonary stenosis. The record also includes structural context.
F1247I (p.Phe1247Ile) variant details
- p.Phe1247Ile
- Ensembl rs2151437786
- Likely pathogenic
- Café-au-lait macules with pulmonary stenosis
- Missense
- ClinVar: Likely pathogenic (Café-au-lait macules with pulmonary stenosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available