E45V (p.Glu45Val) variant of MEN1 (Menin)
E45V (p.Glu45Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The record also includes structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- cosmic curated COSV56342
- Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 1)
- UniProt: Likely pathogenic (in MEN1)
- Structural context available