G18G (p.Gly18Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G18G (p.Gly18Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G18G (p.Gly18Gly) variant details
- p.Gly18Gly
- rs769227162
- gnomAD 5-119452629-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 14.90
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available