C14F (p.Cys14Phe) variant of PSEN2 (Presenilin-2)
C14F (p.Cys14Phe) in PSEN2 (Presenilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
C14F (p.Cys14Phe) variant details
- p.Cys14Phe
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available