R23Q (p.Arg23Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R23Q (p.Arg23Gln) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- ExAC rs762613990
- TOPMed rs762613990
- gnomAD rs762613990
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available