M1L (p.Met1Leu) variant of NF1 (Neurofibromin)
M1L (p.Met1Leu) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1060500252
- ClinGen CA398979144
- ClinVar RCV001939653
- ClinVar RCV002423137
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- MetaLR 0.07
- MetaSVM -1.11
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 1.00
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)