L13V (p.Leu13Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13V (p.Leu13Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- Ensembl rs1561419761
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.87
- MetaSVM 0.78
- CADD 15.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available