D1217N (p.Asp1217Asn) variant of NF1 (Neurofibromin)
D1217N (p.Asp1217Asn) 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 0.55 / 1. The record also includes published literature and structural context.
D1217N (p.Asp1217Asn) variant details
- p.Asp1217Asn
- rs2151435685
- ClinGen CA398990451
- ClinVar RCV003597692
- Ensembl rs2151435685
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.61
- MetaLR 0.62
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.16
- 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)