L13Q (p.Leu13Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L13Q (p.Leu13Gln) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- Ensembl rs1249647574
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.92
- SIFT 0.00
- Structural context available