S3* (p.Ser3Ter) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3* (p.Ser3Ter) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD 5-119452815-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available