D33E (p.Asp33Glu) variant of MEN1 (Menin)
D33E (p.Asp33Glu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs1193762201
- ClinGen CA381187976
- ClinVar RCV003023285
- gnomAD rs1193762201
- Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)