A1071P (p.Ala1071Pro) variant of NF1 (Neurofibromin)
A1071P (p.Ala1071Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurofibromatosis, type 1. The record also includes published literature and structural context.
A1071P (p.Ala1071Pro) variant details
- p.Ala1071Pro
- rs2067122183
- ClinGen CA398988605
- ClinVar RCV001290935
- Ensembl rs2067122183
- Pathogenic/Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- ClinVar: Pathogenic/Likely 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)