G2E (p.Gly2Glu) variant of MEN1 (Menin)
G2E (p.Gly2Glu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- rs1592661296
- ClinGen CA381188335
- ClinVar RCV000800118
- Ensembl rs1592661296
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.90
- CADD 28.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)