C241R (p.Cys241Arg) variant of MEN1 (Menin)
C241R (p.Cys241Arg) 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; Multiple endocrine neoplasia, type 1; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C241R (p.Cys241Arg) variant details
- p.Cys241Arg
- rs1592649108
- ClinGen CA381184471
- ClinVar RCV000816677
- ClinVar RCV002293487
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.88
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)
- Cited in: A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1. (PMID 10229909)