D8Y (p.Asp8Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
D8Y (p.Asp8Tyr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- gnomAD 5-119452597-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 18.30
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available