A14A (p.Ala14Ala) variant of APOE (Apolipoprotein E)
A14A (p.Ala14Ala) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs768934589
- gnomAD 19-44906666-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available