D18N (p.Asp18Asn) variant of MEN1 (Menin)
D18N (p.Asp18Asn) 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 0.64 / 1. The record also includes published literature and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs2136195598
- ClinGen CA381188155
- ClinVar RCV002257046
- Ensembl rs2136195598
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.46
- MetaLR 0.88
- MetaSVM 1.02
- PolyPhen-2 0.04
- SIFT 0.31
- EVE 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)