L1446R (p.Leu1446Arg) variant of NF1 (Neurofibromin)
L1446R (p.Leu1446Arg) 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 0.85 / 1. The record also includes published literature and structural context.
L1446R (p.Leu1446Arg) variant details
- p.Leu1446Arg
- rs199474733
- ClinGen CA398998690
- ClinVar RCV003597830
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.82
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: Pathogenic (in NF1)
- 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)