R506C (p.Arg506Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R506C (p.Arg506Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R506C (p.Arg506Cys) variant details
- p.Arg506Cys
- rs766199971
- ClinGen CA3382299
- ClinVar RCV000590157
- ClinVar RCV000763126
- Pathogenic/Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.81
- MetaSVM 0.89
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)