L43R (p.Leu43Arg) variant of NF1 (Neurofibromin)
L43R (p.Leu43Arg) 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 0.42 / 1. The record also includes published literature and structural context.
L43R (p.Leu43Arg) variant details
- p.Leu43Arg
- rs1555604899
- ClinGen CA398988396
- ClinVar RCV003495830
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic
- UniProt: 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)