G2A (p.Gly2Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G2A (p.Gly2Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD rs1192300477
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available