L13E (p.Leu13Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13E (p.Leu13Glu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L13E (p.Leu13Glu) variant details
- p.Leu13Glu
- gnomAD 5-119452780-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available