K46T (p.Lys46Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K46T (p.Lys46Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K46T (p.Lys46Thr) variant details
- p.Lys46Thr
- gnomAD 5-119452791-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.91
- CADD 13.70
- SIFT 0.11
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available