R71C (p.Arg71Cys) variant of HSD17B3 (P37058)
R71C (p.Arg71Cys) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R71C (p.Arg71Cys) variant details
- p.Arg71Cys
- ESP rs375673180
- ExAC rs375673180
- TOPMed rs375673180
- gnomAD rs375673180
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.42
- MetaLR 0.80
- MetaSVM 0.37
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available