L48L (p.Leu48Leu) variant of APOE (Apolipoprotein E)
L48L (p.Leu48Leu) in APOE (Apolipoprotein E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 19-44907858-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 3.77
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available