E31G (p.Glu31Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31G (p.Glu31Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- gnomAD 5-119452767-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.94
- CADD 16.20
- SIFT 0.07
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available