A19G (p.Ala19Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A19G (p.Ala19Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not specified. 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.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs148363262
- ClinGen CA501230
- ClinVar RCV000215788
- ClinVar RCV004020593
- Likely benign
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)