R6M (p.Arg6Met) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R6M (p.Arg6Met) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R6M (p.Arg6Met) variant details
- p.Arg6Met
- TOPMed rs1406012759
- gnomAD rs1406012759
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 18.30
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available