E31E (p.Glu31Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31E (p.Glu31Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- rs1561420145
- gnomAD 5-119452768-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.46
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available