C165Y (p.Cys165Tyr) variant of MEN1 (Menin)
C165Y (p.Cys165Tyr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C165Y (p.Cys165Tyr) variant details
- p.Cys165Tyr
- rs1057521111
- ClinGen CA16605984
- cosmic curated COSV53640
- ClinVar RCV000442726
- Pathogenic/Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)