G42S (p.Gly42Ser) variant of MEN1 (Menin)
G42S (p.Gly42Ser) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.92 / 1. The record also includes published literature and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs1942013583
- ClinGen CA381187890
- cosmic curated COSV56343
- ClinVar RCV001302220
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- 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: Conflicting classifications of pathogenicity (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)