R47S (p.Arg47Ser) variant of HSPG2 (P98160)
R47S (p.Arg47Ser) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- rs544234613
- ClinGen CA674020
- ClinVar RCV001976194
- 1000Genomes rs544234613
- Uncertain significance
- not provided
- Missense
- REVEL 0.05
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available