M1L (p.Met1Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
M1L (p.Met1Leu) 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; Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1488399880
- ClinGen CA360861558
- ClinVar RCV001065701
- Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.55
- MetaSVM 0.18
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)