S51P (p.Ser51Pro) variant of PSEN1 (Presenilin-1)
S51P (p.Ser51Pro) in PSEN1 (Presenilin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- NCI-TCGA Cosmic COSV5619
- cosmic curated COSV56196
- TOPMed rs1897867942
- gnomAD rs1897867942
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available