G254R (p.Gly254Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G254R (p.Gly254Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G254R (p.Gly254Arg) variant details
- p.Gly254Arg
- rs2531703971
- ClinVar RCV004595181
- Pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.83
- CADD 31.00
- ClinVar: Pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available