G57V (p.Gly57Val) variant of PSEN1 (Presenilin-1)
G57V (p.Gly57Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pick disease; Alzheimer disease 3; Frontotemporal dementia. The record also includes structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- Ensembl rs1897868940
- Uncertain significance
- Pick disease; Alzheimer disease 3; Frontotemporal dementia
- Missense
- ClinVar: Uncertain significance (Pick disease; Alzheimer disease 3; Frontotemporal dementia)
- UniProt: Uncertain significance
- Structural context available