M1I (p.Met1Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
M1I (p.Met1Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1085307072
- ClinGen CA360861571
- ClinVar RCV000490425
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.62
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)