S30F (p.Ser30Phe) variant of PSEN2 (Presenilin-2)
S30F (p.Ser30Phe) in PSEN2 (Presenilin-2) is a missense change. The record also includes structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- cosmic curated COSV10042
- Missense
- Structural context available