A34V (p.Ala34Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A34V (p.Ala34Val) 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 Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- ExAC rs587777442
- TOPMed rs587777442
- gnomAD rs587777442
- Pathogenic/Likely pathogenic
- Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 13.30
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Bifunctional peroxisomal enzyme deficiency; Perrault syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available