K46R (p.Lys46Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K46R (p.Lys46Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- Ensembl rs936572362
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.20
- ESM-1b 0.76
- AlphaMissense 0.06
- MetaLR 0.38
- MetaSVM -0.84
- CADD 16.00
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available