K50E (p.Lys50Glu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K50E (p.Lys50Glu) 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.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- gnomAD 5-119471667-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.18
- MetaLR 0.25
- MetaSVM -0.82
- CADD 11.80
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available