T1199P (p.Thr1199Pro) variant of NF1 (Neurofibromin)
T1199P (p.Thr1199Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
T1199P (p.Thr1199Pro) variant details
- p.Thr1199Pro
- rs1453504440
- ClinGen CA398990234
- ClinVar RCV003496729
- Ensembl rs1453504440
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.69
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 0.14
- SIFT 0.01
- EVE 0.51
- 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)