L8F (p.Leu8Phe) variant of APOE (Apolipoprotein E)
L8F (p.Leu8Phe) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD 19-44906648-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.40
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available