F4L (p.Phe4Leu) variant of PSEN2 (Presenilin-2)
F4L (p.Phe4Leu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- TOPMed rs1485007322
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.61
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available