L44M (p.Leu44Met) variant of PSEN1 (Presenilin-1)
L44M (p.Leu44Met) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L44M (p.Leu44Met) variant details
- p.Leu44Met
- gnomAD 14-73160036-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.75
- Population evidence available
- Structural context available
- Literature evidence available