P47L (p.Pro47Leu) variant of PSEN1 (Presenilin-1)
P47L (p.Pro47Leu) in PSEN1 (Presenilin-1) is a missense change. The record also includes structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- Ensembl rs947643420
- Missense
- Structural context available