G45Y (p.Gly45Tyr) variant of PSEN1 (Presenilin-1)
G45Y (p.Gly45Tyr) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G45Y (p.Gly45Tyr) variant details
- p.Gly45Tyr
- rs1482783471
- gnomAD 14-73170840-TTGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available