D1849Y (p.Asp1849Tyr) variant of NF1 (Neurofibromin)
D1849Y (p.Asp1849Tyr) 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 0.63 / 1. The record also includes published literature and structural context.
D1849Y (p.Asp1849Tyr) variant details
- p.Asp1849Tyr
- rs2151541722
- ClinGen CA399009833
- cosmic curated COSV62197
- ClinVar RCV003079212
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.97
- MetaLR 0.57
- MetaSVM 0.24
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.75
- 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)