L8F (p.Leu8Phe) variant of PSEN1 (Presenilin-1)
L8F (p.Leu8Phe) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD 14-73148043-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.56
- CADD 20.20
- PolyPhen-2 0.22
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available