A47H (p.Ala47His) variant of APOE (Apolipoprotein E)
A47H (p.Ala47His) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A47H (p.Ala47His) variant details
- p.Ala47His
- gnomAD 19-44907853-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available