D45N (p.Asp45Asn) variant of NF2 (Merlin)
D45N (p.Asp45Asn) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs370147621
- ClinGen CA411152451
- cosmic curated COSV58533
- ClinVar RCV001315989
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.45
- CADD 29.60
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neurofibromatosis, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)