L82R (p.Leu82Arg) variant of HSD17B3 (P37058)
L82R (p.Leu82Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L82R (p.Leu82Arg) variant details
- p.Leu82Arg
- TOPMed rs1408993881
- gnomAD rs1408993881
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.48
- MetaLR 0.46
- MetaSVM -0.18
- CADD 19.60
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available