V58A (p.Val58Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V58A (p.Val58Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Perrault syndrome; Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- cosmic curated COSV56338
- Uncertain significance
- Perrault syndrome; Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- ESM-1b 1.00
- AlphaMissense 0.42
- ClinVar: Uncertain significance (Perrault syndrome; Bifunctional peroxisomal enzyme deficiency)
- UniProt: Uncertain significance
- Structural context available