K50R (p.Lys50Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K50R (p.Lys50Arg) 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.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- gnomAD 5-119471668-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.95
- CADD 5.87
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available