S52* (p.Ser52Ter) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S52* (p.Ser52Ter) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S52* (p.Ser52Ter) variant details
- p.Ser52Ter
- gnomAD 5-119471677-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 25.50
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available