M1I (p.Met1Ile) variant of NF1 (Neurofibromin)
M1I (p.Met1Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurofibromatosis, type 1; Juvenile myelomonocytic leukemia; Neurofibromatosis-N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1598173737
- ClinGen CA398979155
- ClinVar RCV002319303
- ClinVar RCV005639237
- Pathogenic/Likely pathogenic
- Neurofibromatosis, type 1; Juvenile myelomonocytic leukemia; Neurofibromatosis-N
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- MetaLR 0.08
- MetaSVM -1.12
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Neurofibromatosis, type 1; Juvenile myelomonocytic leukemia; Neu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)