W47C (p.Trp47Cys) variant of PSEN2 (Presenilin-2)
W47C (p.Trp47Cys) in PSEN2 (Presenilin-2) is a missense change. The record also includes structural context.
W47C (p.Trp47Cys) variant details
- p.Trp47Cys
- cosmic curated COSV10522
- Missense
- Structural context available