R23* (p.Arg23Ter) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R23* (p.Arg23Ter) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs765702241
- ClinGen CA3381653
- NCI-TCGA Cosmic COSV5633
- cosmic curated COSV56338
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.27
- MetaLR 0.09
- MetaSVM -1.04
- CADD 23.10
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)