G2397W (p.Gly2397Trp) variant of NF1 (Neurofibromin)
G2397W (p.Gly2397Trp) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Cardiovascular phenotype; Neurofibromat. The record also includes variant effect predictions and structural context.
G2397W (p.Gly2397Trp) variant details
- p.Gly2397Trp
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- Pathogenic
- Hereditary cancer-predisposing syndrome; Cardiovascular phenotype; Neurofibromat
- Missense
- MetaLR 0.48
- MetaSVM 0.02
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Cardiovascular phenotyp)
- UniProt: Pathogenic
- Structural context available