A196V (p.Ala196Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A196V (p.Ala196Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A196V (p.Ala196Val) variant details
- p.Ala196Val
- rs550705310
- ClinGen CA3381883
- cosmic curated COSV56337
- ClinVar RCV002034370
- Conflicting interpretations
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.82
- MetaSVM 0.79
- CADD 26.30
- ClinVar: Conflicting classifications of pathogenicity (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; n)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Perrault Syndrome Overview. (PMID 25254289)