D418E (p.Asp418Glu) variant of MEN1 (Menin)
D418E (p.Asp418Glu) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
D418E (p.Asp418Glu) variant details
- p.Asp418Glu
- rs2071313
- ClinGen CA381180506
- ClinVar RCV000819849
- 1000Genomes rs2071313
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Benign (in MEN1)
- UniProt: Benign (in MEN1)
- 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)