R23L (p.Arg23Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R23L (p.Arg23Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- ExAC rs762613990
- TOPMed rs762613990
- gnomAD rs762613990
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 14.10
- PolyPhen-2 0.21
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available