G45G (p.Gly45Gly) variant of PSEN1 (Presenilin-1)
G45G (p.Gly45Gly) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G45G (p.Gly45Gly) variant details
- p.Gly45Gly
- gnomAD 14-73170844-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 7.40
- Population evidence available
- Structural context available
- Literature evidence available