G57C (p.Gly57Cys) variant of PSEN1 (Presenilin-1)
G57C (p.Gly57Cys) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- gnomAD 14-73170878-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.56
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available