C241Y (p.Cys241Tyr) variant of MEN1 (Menin)
C241Y (p.Cys241Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.82 / 1. The record also includes published literature and structural context.
C241Y (p.Cys241Tyr) variant details
- p.Cys241Tyr
- rs794728624
- ClinGen CA009579
- ClinVar RCV000461795
- ClinVar RCV000491344
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.32
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1). (PMID 10576763)
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)