R18P (p.Arg18Pro) variant of HSPG2 (P98160)
R18P (p.Arg18Pro) 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; Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- TOPMed rs1644512070
- gnomAD rs1644512070
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.36
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available