C31F (p.Cys31Phe) variant of PSEN2 (Presenilin-2)
C31F (p.Cys31Phe) in PSEN2 (Presenilin-2) is a missense change. The record also includes structural context.
C31F (p.Cys31Phe) variant details
- p.Cys31Phe
- cosmic curated COSV10042
- Missense
- Structural context available