L4Y (p.Leu4Tyr) variant of PSEN1 (Presenilin-1)
L4Y (p.Leu4Tyr) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L4Y (p.Leu4Tyr) variant details
- p.Leu4Tyr
- gnomAD 14-73148028-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available