A175T (p.Ala175Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A175T (p.Ala175Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A175T (p.Ala175Thr) variant details
- p.Ala175Thr
- rs1554062814
- ClinGen CA360866247
- ClinVar RCV000671924
- Ensembl rs1554062814
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.38
- ESM-1b 0.57
- AlphaMissense 0.13
- MetaLR 0.32
- MetaSVM -0.83
- CADD 9.56
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available