H46Y (p.His46Tyr) variant of MEN1 (Menin)
H46Y (p.His46Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- rs2136192749
- ClinGen CA381187842
- ClinVar RCV003296299
- ClinVar RCV006612975
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.91
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 0.28
- SIFT 0.65
- EVE 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)