R18L (p.Arg18Leu) variant of HSPG2 (P98160)
R18L (p.Arg18Leu) 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.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- rs1644512070
- ClinGen CA338909934
- ClinVar RCV002044911
- TOPMed rs1644512070
- Uncertain significance
- not provided
- Missense
- REVEL 0.13
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available