G18R (p.Gly18Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G18R (p.Gly18Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- gnomAD 5-119452627-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 17.80
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available