L5V (p.Leu5Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L5V (p.Leu5Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- gnomAD 5-119452763-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.90
- CADD 7.88
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available