A17R (p.Ala17Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17R (p.Ala17Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A17R (p.Ala17Arg) variant details
- p.Ala17Arg
- rs756589424
- gnomAD 5-119452768-GGCAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 21.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available