L13M (p.Leu13Met) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13M (p.Leu13Met) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- rs1561419761
- ClinGen CA360861710
- ClinVar RCV000732016
- Ensembl rs1561419761
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.87
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available