L48Q (p.Leu48Gln) variant of MEN1 (Menin)
L48Q (p.Leu48Gln) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L48Q (p.Leu48Gln) variant details
- p.Leu48Gln
- Ensembl rs1592660057
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available