T2409R (p.Thr2409Arg) variant of NF1 (Neurofibromin)
T2409R (p.Thr2409Arg) 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.
T2409R (p.Thr2409Arg) variant details
- p.Thr2409Arg
- rs1597858415
- ClinGen CA399016726
- cosmic curated COSV10525
- ClinVar RCV003599390
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- MutPred 0.40
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic
- UniProt: Likely 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)