K46Q (p.Lys46Gln) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K46Q (p.Lys46Gln) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K46Q (p.Lys46Gln) variant details
- p.Lys46Gln
- gnomAD 5-119452790-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.85
- CADD 12.50
- SIFT 0.23
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available