R275K (p.Arg275Lys) variant of MEN1 (Menin)
R275K (p.Arg275Lys) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R275K (p.Arg275Lys) variant details
- p.Arg275Lys
- rs1187634059
- ClinGen CA381183860
- ClinVar RCV000820746
- ClinVar RCV002427053
- Pathogenic
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.80
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.88
- CADD 32.00
- PolyPhen-2 0.01
- ClinVar: Pathogenic (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)