R5T (p.Arg5Thr) variant of NF1 (Neurofibromin)
R5T (p.Arg5Thr) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- rs2143144621
- ClinGen CA398979205
- ClinVar RCV003820000
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- AlphaMissense 0.91
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.59
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)