D172Y (p.Asp172Tyr) variant of MEN1 (Menin)
D172Y (p.Asp172Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not specified; Multiple endocrine neopl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
D172Y (p.Asp172Tyr) variant details
- p.Asp172Tyr
- rs1114167494
- ClinGen CA381186018
- ClinVar RCV000491441
- ClinVar RCV000507490
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not specified; Multiple endocrine neopl
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not specified; Multiple)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)
- Cited in: Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. (PMID 9888389)