R56S (p.Arg56Ser) variant of APOE (Apolipoprotein E)
R56S (p.Arg56Ser) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- gnomAD 19-44907882-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.42
- CADD 21.30
- PolyPhen-2 0.18
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available