S52P (p.Ser52Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S52P (p.Ser52Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S52P (p.Ser52Pro) variant details
- p.Ser52Pro
- gnomAD 5-119471676-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.22
- MetaLR 0.27
- MetaSVM -0.77
- CADD 9.61
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available