S2018R (p.Ser2018Arg) variant of NF1 (Neurofibromin)
S2018R (p.Ser2018Arg) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurofibromatosis, type 1. The record also includes variant effect predictions, published literature, and structural context.
S2018R (p.Ser2018Arg) variant details
- p.Ser2018Arg
- rs2151553286
- ClinGen CA399011108
- ClinVar RCV001353286
- ClinVar RCV002357209
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- MutPred 0.57
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- 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)