D53T (p.Asp53Thr) variant of APOE (Apolipoprotein E)
D53T (p.Asp53Thr) in APOE (Apolipoprotein E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D53T (p.Asp53Thr) variant details
- p.Asp53Thr
- gnomAD 19-44905896-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.30
- Population evidence available
- Structural context available
- Literature evidence available