D45Y (p.Asp45Tyr) variant of NF2 (Merlin)
D45Y (p.Asp45Tyr) 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; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- rs370147621
- ClinGen CA031129
- ClinVar RCV002387688
- ClinVar RCV004572404
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.65
- CADD 25.60
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)