T59P (p.Thr59Pro) variant of NF1 (Neurofibromin)
T59P (p.Thr59Pro) 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; Neurofibromatosis-Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
T59P (p.Thr59Pro) variant details
- p.Thr59Pro
- rs1567814586
- ClinGen CA398988648
- ClinVar RCV003041287
- ClinVar RCV005255510
- Likely pathogenic
- Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.46
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.13
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome)
- 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)