N1156H (p.Asn1156His) variant of NF1 (Neurofibromin)
N1156H (p.Asn1156His) 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 0.42 / 1. The record also includes published literature and structural context.
N1156H (p.Asn1156His) variant details
- p.Asn1156His
- rs2067138110
- ClinGen CA398989379
- ClinVar RCV003496205
- Ensembl rs2067138110
- Likely pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Likely pathogenic (Neurofibromatosis, type 1)
- EBI: Likely pathogenic (in NF1)
- UniProt: Likely pathogenic (in NF1)
- 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)