S52L (p.Ser52Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S52L (p.Ser52Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S52L (p.Ser52Leu) variant details
- p.Ser52Leu
- gnomAD 5-119471677-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.92
- CADD 4.36
- SIFT 0.20
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available