G51V (p.Gly51Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G51V (p.Gly51Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- 1000Genomes rs566990969
- ExAC rs566990969
- TOPMed rs566990969
- gnomAD rs566990969
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.53
- MetaSVM -0.05
- CADD 23.10
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available