R16A (p.Arg16Ala) variant of NF1 (Neurofibromin)
R16A (p.Arg16Ala) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R16A (p.Arg16Ala) variant details
- p.Arg16Ala
- rs2544511498
- ClinGen CA2573040366
- ClinVar RCV002837707
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)