N1683K (p.Asn1683Lys) variant of NF1 (Neurofibromin)
N1683K (p.Asn1683Lys) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
N1683K (p.Asn1683Lys) variant details
- p.Asn1683Lys
- rs140994965
- ClinGen CA399007398
- ClinVar RCV000811993
- ESP rs140994965
- Pathogenic/Likely pathogenic
- not provided; Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)