G9W (p.Gly9Trp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G9W (p.Gly9Trp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- gnomAD rs746540197
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 18.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available