E31G (p.Glu31Gly) variant of MEN1 (Menin)
E31G (p.Glu31Gly) 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; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- rs1060499977
- ClinGen CA381188001
- ClinVar RCV000632084
- TOPMed rs1060499977
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.83
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)