N1154T (p.Asn1154Thr) variant of NF1 (Neurofibromin)
N1154T (p.Asn1154Thr) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N1154T (p.Asn1154Thr) variant details
- p.Asn1154Thr
- rs371544233
- ClinGen CA398989362
- ClinVar RCV003494721
- ESP rs371544233
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.72
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.89
- CADD 22.70
- PolyPhen-2 0.00
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)