E51D (p.Glu51Asp) variant of PSEN2 (Presenilin-2)
E51D (p.Glu51Asp) in PSEN2 (Presenilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- Ensembl rs1558144887
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available