A2F (p.Ala2Phe) variant of NF1 (Neurofibromin)
A2F (p.Ala2Phe) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
A2F (p.Ala2Phe) variant details
- p.Ala2Phe
- rs1555594471
- ClinGen CA658658569
- ClinVar RCV000632482
- ClinVar RCV002315794
- Uncertain significance
- Missense
- 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)