R23G (p.Arg23Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R23G (p.Arg23Gly) 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; Inborn genetic di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- rs765702241
- ClinGen CA3381652
- ClinVar RCV003058842
- ClinVar RCV004070266
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; Inborn genetic di
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.21
- MetaSVM -0.93
- CADD 20.10
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency; I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)