L44F (p.Leu44Phe) variant of PSEN1 (Presenilin-1)
L44F (p.Leu44Phe) in PSEN1 (Presenilin-1) is a missense 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.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- gnomAD 14-73160029-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 6.69
- Population evidence available
- Structural context available
- Literature evidence available