A17A (p.Ala17Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A17A (p.Ala17Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs756529538
- gnomAD 5-119452626-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.09
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available