N1451K (p.Asn1451Lys) variant of NF1 (Neurofibromin)
N1451K (p.Asn1451Lys) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N1451K (p.Asn1451Lys) variant details
- p.Asn1451Lys
- rs2508413593
- ClinGen CA398998744
- ClinVar RCV003496726
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.80
- MetaLR 0.81
- MetaSVM 0.61
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NFNS)
- UniProt: Pathogenic (in NFNS)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)