G18V (p.Gly18Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G18V (p.Gly18Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bifunctional peroxisomal enzyme deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs2531472210
- ClinGen CA360861745
- ClinVar RCV003322722
- Uncertain significance
- Bifunctional peroxisomal enzyme deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Uncertain significance (Bifunctional peroxisomal enzyme deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available