L13F (p.Leu13Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13F (p.Leu13Phe) 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.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs891333978
- gnomAD 5-119452783-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.90
- CADD 14.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available