E18A (p.Glu18Ala) variant of PSEN1 (Presenilin-1)
E18A (p.Glu18Ala) in PSEN1 (Presenilin-1) is a missense change. The record also includes structural context.
E18A (p.Glu18Ala) variant details
- p.Glu18Ala
- TOPMed rs1897119823
- Missense
- Structural context available