D45G (p.Asp45Gly) variant of NF2 (Merlin)
D45G (p.Asp45Gly) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- rs2146851936
- ClinGen CA411152454
- ClinVar RCV002387907
- Ensembl rs2146851936
- Uncertain significance
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.90
- CADD 33.00
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)