L13S (p.Leu13Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13S (p.Leu13Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L13S (p.Leu13Ser) variant details
- p.Leu13Ser
- gnomAD 5-119452782-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.94
- CADD 12.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available