R71S (p.Arg71Ser) variant of HSD17B3 (P37058)
R71S (p.Arg71Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R71S (p.Arg71Ser) variant details
- p.Arg71Ser
- ESP rs375673180
- ExAC rs375673180
- TOPMed rs375673180
- gnomAD rs375673180
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.50
- MetaLR 0.70
- MetaSVM -0.04
- CADD 24.40
- PolyPhen-2 0.74
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available