L41I (p.Leu41Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L41I (p.Leu41Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- gnomAD 5-119471646-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.90
- CADD 0.07
- SIFT 0.15
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available