E31D (p.Glu31Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31D (p.Glu31Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD 5-119452768-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.88
- CADD 13.40
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available