D338N (p.Asp338Asn) variant of NF1 (Neurofibromin)
D338N (p.Asp338Asn) 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 0.48 / 1. The record also includes published literature and structural context.
D338N (p.Asp338Asn) variant details
- p.Asp338Asn
- rs2143873866
- ClinGen CA398996282
- ClinVar RCV003061626
- Ensembl rs2143873866
- Pathogenic
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.56
- MetaLR 0.43
- MetaSVM -0.14
- PolyPhen-2 0.99
- SIFT 0.07
- EVE 0.30
- ClinVar: Pathogenic (Neurofibromatosis, type 1)
- EBI: Pathogenic (in NF1)
- UniProt: 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)