P4T (p.Pro4Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
P4T (p.Pro4Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD 5-119452796-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.99
- CADD 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available