G57S (p.Gly57Ser) variant of PSEN1 (Presenilin-1)
G57S (p.Gly57Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- gnomAD 14-73170878-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.49
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available