S40C (p.Ser40Cys) variant of APOE (Apolipoprotein E)
S40C (p.Ser40Cys) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- gnomAD 19-44905872-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.13
- Population evidence available
- Structural context available
- Literature evidence available