R32G (p.Arg32Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R32G (p.Arg32Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- 1000Genomes rs192005316
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.77
- MetaSVM 0.63
- CADD 25.90
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available