D129G (p.Asp129Gly) variant of HSPG2 (P98160)
D129G (p.Asp129Gly) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
D129G (p.Asp129Gly) variant details
- p.Asp129Gly
- ExAC rs767969810
- TOPMed rs767969810
- gnomAD rs767969810
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.20
- CADD 24.50
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available