S40F (p.Ser40Phe) variant of APOE (Apolipoprotein E)
S40F (p.Ser40Phe) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- rs1377502673
- gnomAD 19-44905885-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 7.88
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available