S52G (p.Ser52Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S52G (p.Ser52Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- rs749165759
- gnomAD 5-119456355-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.37
- MetaLR 0.26
- MetaSVM -0.79
- CADD 22.60
- SIFT 0.20
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available