Y54H (p.Tyr54His) variant of APOE (Apolipoprotein E)
Y54H (p.Tyr54His) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- gnomAD 19-44907876-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.86
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available