D68H (p.Asp68His) variant of HSPG2 (P98160)
D68H (p.Asp68His) 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.
D68H (p.Asp68His) variant details
- p.Asp68His
- ExAC rs746978748
- TOPMed rs746978748
- gnomAD rs746978748
- Uncertain significance
- Missense
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance (in dbSNP:rs1869780)
- UniProt: Uncertain significance (in dbSNP:rs1869780)
- Population evidence available