L5P (p.Leu5Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L5P (p.Leu5Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs767820201
- gnomAD 5-119452764-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.12
- MetaLR 0.22
- MetaSVM -0.88
- CADD 15.10
- SIFT 0.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available