R21S (p.Arg21Ser) variant of MEN1 (Menin)
R21S (p.Arg21Ser) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperparathyroidism; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- rs541476418
- ClinGen CA061326
- ClinVar RCV000396094
- ClinVar RCV000563926
- Conflicting interpretations
- Hyperparathyroidism; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.58
- AlphaMissense 0.25
- MetaLR 0.81
- MetaSVM 0.85
- CADD 23.40
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hyperparathyroidism; Hereditary cancer-predisposing syndrome; no)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PJL population (allele frequency 0.0054)
- 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)