R21L (p.Arg21Leu) variant of MEN1 (Menin)
R21L (p.Arg21Leu) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- rs760629445
- ClinGen CA381188109
- ClinVar RCV004522728
- ExAC rs760629445
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.64
- CADD 25.00
- PolyPhen-2 0.40
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)