A49P (p.Ala49Pro) variant of MEN1 (Menin)
A49P (p.Ala49Pro) 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. The record also includes structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- Ensembl rs1942011819
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available