L48R (p.Leu48Arg) variant of MEN1 (Menin)
L48R (p.Leu48Arg) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- Ensembl rs1592660057
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available