E30D (p.Glu30Asp) variant of MEN1 (Menin)
E30D (p.Glu30Asp) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- rs2497286635
- ClinGen CA381188009
- ClinVar RCV002378639
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.39
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)