A26S (p.Ala26Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A26S (p.Ala26Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- rs751186437
- ClinGen CA360859923
- ClinVar RCV003365967
- ExAC rs751186437
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.80
- ESM-1b 0.94
- AlphaMissense 0.10
- MetaLR 0.37
- MetaSVM -0.44
- CADD 23.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)