A7G (p.Ala7Gly) variant of APOE (Apolipoprotein E)
A7G (p.Ala7Gly) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs778989940
- gnomAD 19-44906636-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available