G22A (p.Gly22Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G22A (p.Gly22Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 5-119456321-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 10.60
- PolyPhen-2 0.98
- SIFT 0.18
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available