R1412T (p.Arg1412Thr) variant of NF1 (Neurofibromin)
R1412T (p.Arg1412Thr) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1412T (p.Arg1412Thr) variant details
- p.Arg1412Thr
- rs1555618516
- ClinGen CA398997839
- cosmic curated COSV62207
- ClinVar RCV000626643
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.03
- CADD 28.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)