G42R (p.Gly42Arg) variant of MEN1 (Menin)
G42R (p.Gly42Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs1942013583
- ClinGen CA381187888
- ClinVar RCV002400806
- Ensembl rs1942013583
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.67
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- 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)