V59A (p.Val59Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V59A (p.Val59Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V59A (p.Val59Ala) variant details
- p.Val59Ala
- gnomAD 5-119471695-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.25
- MetaLR 0.78
- MetaSVM -0.02
- CADD 17.40
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available