D18V (p.Asp18Val) variant of MEN1 (Menin)
D18V (p.Asp18Val) 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 0.72 / 1. The record also includes published literature and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- rs2136195565
- ClinGen CA381188147
- ClinVar RCV004522726
- Ensembl rs2136195565
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.91
- MetaLR 0.94
- MetaSVM 1.01
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.23
- 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)