S40* (p.Ser40Ter) variant of APOE (Apolipoprotein E)
S40* (p.Ser40Ter) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- gnomAD 19-44905876-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 2.60
- Population evidence available
- Structural context available
- Literature evidence available