P12R (p.Pro12Arg) variant of MEN1 (Menin)
P12R (p.Pro12Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs794728614
- ClinGen CA381188219
- ClinVar RCV002455181
- ClinVar RCV003517379
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Likely pathogenic (in MEN1)
- UniProt: Likely pathogenic (in MEN1)
- 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)