L21R (p.Leu21Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L21R (p.Leu21Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 5-119452627-G-GGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available