R16G (p.Arg16Gly) variant of NF1 (Neurofibromin)
R16G (p.Arg16Gly) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Juvenile myel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs1057520334
- ClinGen CA398979366
- ClinVar RCV003463159
- ClinVar RCV004560186
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome; Juvenile myel
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.94
- MetaLR 0.11
- MetaSVM -0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)