E34Q (p.Glu34Gln) variant of NF2 (Merlin)
E34Q (p.Glu34Gln) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs753425376
- ClinGen CA029336
- ClinVar RCV001365016
- ClinVar RCV002438846
- Conflicting interpretations
- Neurofibromatosis, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.56
- CADD 26.10
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Neurofibromatosis, type 2; Hereditary cancer-predisposing syndro)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)