S3T (p.Ser3Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3T (p.Ser3Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- gnomAD 5-119452814-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -1.02
- CADD 1.29
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available