V218L (p.Val218Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V218L (p.Val218Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency; Perrault syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V218L (p.Val218Leu) variant details
- p.Val218Leu
- rs1749878115
- ClinGen CA360866929
- ClinVar RCV001645023
- ClinVar RCV002546240
- Pathogenic/Likely pathogenic
- Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency; Perrault syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.80
- MetaSVM 0.76
- CADD 23.80
- ClinVar: Pathogenic/Likely pathogenic (Perrault syndrome 1; Bifunctional peroxisomal enzyme deficiency;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)