L41V (p.Leu41Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L41V (p.Leu41Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- gnomAD 5-119471646-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.90
- CADD 0.34
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available