G22C (p.Gly22Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G22C (p.Gly22Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar and UniProt describe it as no classification for the single variant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD rs794729224
- no classification for the single variant
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.78
- MetaSVM 0.82
- CADD 25.80
- ClinVar: no classification for the single variant
- UniProt: No classification for the single variant
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available