R47C (p.Arg47Cys) variant of HSPG2 (P98160)
R47C (p.Arg47Cys) in HSPG2 (P98160) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- 1000Genomes rs544234613
- ExAC rs544234613
- TOPMed rs544234613
- gnomAD rs544234613
- Uncertain significance
- Missense
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available