L44S (p.Leu44Ser) variant of PSEN1 (Presenilin-1)
L44S (p.Leu44Ser) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L44S (p.Leu44Ser) variant details
- p.Leu44Ser
- gnomAD 14-73160028-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 7.07
- Population evidence available
- Structural context available
- Literature evidence available