K46K (p.Lys46Lys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K46K (p.Lys46Lys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous 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.
K46K (p.Lys46Lys) variant details
- p.Lys46Lys
- rs1243356358
- gnomAD 5-119452792-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 6.07
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available