C241G (p.Cys241Gly) variant of MEN1 (Menin)
C241G (p.Cys241Gly) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.83 / 1. The record also includes published literature and structural context.
C241G (p.Cys241Gly) variant details
- p.Cys241Gly
- rs1592649108
- ClinGen CA381184474
- ClinVar RCV004555468
- ClinVar RCV004943304
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Variant of uncertain significance (in MEN1)
- UniProt: Uncertain significance (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)