G28D (p.Gly28Asp) variant of MEN1 (Menin)
G28D (p.Gly28Asp) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs1466941669
- ClinGen CA381188032
- ClinVar RCV003171361
- gnomAD rs1466941669
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.62
- PolyPhen-2 0.00
- SIFT 0.25
- EVE 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)