V917G (p.Val917Gly) variant of NF1 (Neurofibromin)
V917G (p.Val917Gly) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1; not provided. The record also includes variant effect predictions and structural context.
V917G (p.Val917Gly) variant details
- p.Val917Gly
- cosmic curated COSV10969
- Ensembl rs2151429581
- Likely pathogenic
- Neurofibromatosis, type 1; not provided
- Missense
- MetaLR 0.79
- MetaSVM 0.74
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available