Q39* (p.Gln39Ter) variant of APOE (Apolipoprotein E)
Q39* (p.Gln39Ter) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- gnomAD 19-44907831-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available