G156D (p.Gly156Asp) variant of MEN1 (Menin)
G156D (p.Gly156Asp) 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 provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G156D (p.Gly156Asp) variant details
- p.Gly156Asp
- rs794728648
- ClinGen CA16605985
- ClinVar RCV000425558
- ClinVar RCV000466874
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in MEN1 and parathyroid tumor)
- UniProt: Pathogenic (in MEN1 and parathyroid tumor)
- Structural context available
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)
- Cited in: Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors. (PMID 11034102)