L22M (p.Leu22Met) variant of MEN1 (Menin)
L22M (p.Leu22Met) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The record also includes published literature and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- rs1592660695
- ClinGen CA381188106
- ClinVar RCV003517090
- Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic (in MEN1)
- UniProt: Likely 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)