L13L (p.Leu13Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13L (p.Leu13Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 5-119452612-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available