E31Q (p.Glu31Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31Q (p.Glu31Gln) 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.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- gnomAD 5-119452793-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.97
- CADD 9.39
- SIFT 0.02
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available