R29* (p.Arg29Ter) variant of MEN1 (Menin)
R29* (p.Arg29Ter) in MEN1 (Menin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R29* (p.Arg29Ter) variant details
- p.Arg29Ter
- rs794728615
- ClinGen CA009645
- cosmic curated COSV56347
- ClinVar RCV000474533
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.13
- MetaLR 0.87
- MetaSVM 0.61
- PolyPhen-2 0.00
- SIFT 0.16
- EVE 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)