V58F (p.Val58Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V58F (p.Val58Phe) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available record places it in the context of Perrault syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
V58F (p.Val58Phe) variant details
- p.Val58Phe
- rs2126682652
- ClinGen CA360864427
- ClinVar RCV001356957
- Ensembl rs2126682652
- not provided
- Perrault syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.81
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (Perrault syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available