D33Y (p.Asp33Tyr) variant of MEN1 (Menin)
D33Y (p.Asp33Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.91 / 1. The record also includes published literature and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- rs2136194342
- ClinGen CA381187986
- ClinVar RCV003518531
- ClinVar RCV004943087
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (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)