G2G (p.Gly2Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G2G (p.Gly2Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G2G (p.Gly2Gly) variant details
- p.Gly2Gly
- rs1417491819
- gnomAD 5-119452581-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 14.70
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available