P4H (p.Pro4His) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
P4H (p.Pro4His) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P4H (p.Pro4His) variant details
- p.Pro4His
- gnomAD 5-119452806-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.82
- CADD 13.70
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available