F47Y (p.Phe47Tyr) variant of MEN1 (Menin)
F47Y (p.Phe47Tyr) 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 0.79 / 1. The record also includes published literature and structural context.
F47Y (p.Phe47Tyr) variant details
- p.Phe47Tyr
- rs2136192635
- ClinGen CA381187826
- ClinVar RCV002389476
- Ensembl rs2136192635
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.73
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.36
- 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)