L21S (p.Leu21Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L21S (p.Leu21Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- gnomAD 5-119452810-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available