V917D (p.Val917Asp) variant of NF1 (Neurofibromin)
V917D (p.Val917Asp) 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; Juvenile myelomonocytic leukemia. The record also includes structural context.
V917D (p.Val917Asp) variant details
- p.Val917Asp
- Ensembl rs2151429581
- Likely pathogenic
- Café-au-lait macules with pulmonary stenosis; Juvenile myelomonocytic leukemia
- Missense
- ClinVar: Likely pathogenic (Café-au-lait macules with pulmonary stenosis; Juvenile myelomono)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available