E31* (p.Glu31Ter) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
E31* (p.Glu31Ter) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The record also includes structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- cosmic curated COSV56339
- Stop Gained
- Structural context available