T15A (p.Thr15Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
T15A (p.Thr15Ala) 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 0.92 / 1. The record also includes structural context.
T15A (p.Thr15Ala) variant details
- p.Thr15Ala
- rs2531472105
- ClinVar RCV004576745
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- ESM-1b 1.00
- AlphaMissense 0.83
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available