G20R (p.Gly20Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G20R (p.Gly20Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- gnomAD rs1754165225
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 31.00
- SIFT 0.30
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available