G33C (p.Gly33Cys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G33C (p.Gly33Cys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- rs1754652365
- gnomAD 5-119456337-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.37
- MetaLR 0.38
- MetaSVM -0.28
- CADD 24.10
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available