L5I (p.Leu5Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L5I (p.Leu5Ile) 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.
L5I (p.Leu5Ile) variant details
- p.Leu5Ile
- gnomAD 5-119452763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.10
- MetaLR 0.21
- MetaSVM -0.90
- CADD 9.43
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available