T15I (p.Thr15Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
T15I (p.Thr15Ile) 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 Bifunctional peroxisomal enzyme deficiency; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- rs1332217802
- ClinGen CA360861729
- ClinVar RCV002608687
- Ensembl rs1332217802
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)