R21C (p.Arg21Cys) variant of MEN1 (Menin)
R21C (p.Arg21Cys) 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; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- rs541476418
- ClinGen CA381188114
- ClinVar RCV001302367
- ClinVar RCV004036236
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.77
- AlphaMissense 0.25
- MetaLR 0.81
- MetaSVM 0.85
- CADD 32.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Benign
- UniProt: Benign
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)