V59L (p.Val59Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V59L (p.Val59Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- gnomAD 5-119471694-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.33
- MetaLR 0.54
- MetaSVM -0.35
- CADD 10.90
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available