A545E (p.Ala545Glu) variant of NF1 (Neurofibromin)
A545E (p.Ala545Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A545E (p.Ala545Glu) variant details
- p.Ala545Glu
- rs2143987317
- ClinGen CA399002145
- ClinVar RCV003058538
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.60
- MetaLR 0.60
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- 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)