G51A (p.Gly51Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G51A (p.Gly51Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- 1000Genomes rs566990969
- ExAC rs566990969
- TOPMed rs566990969
- gnomAD rs566990969
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.43
- MetaSVM -0.35
- CADD 21.10
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available