L5L (p.Leu5Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L5L (p.Leu5Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs2126590496
- gnomAD 5-119452588-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 20.80
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available