S40L (p.Ser40Leu) variant of APOE (Apolipoprotein E)
S40L (p.Ser40Leu) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs1969797617
- gnomAD 19-44905881-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.40
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available