D78Y (p.Asp78Tyr) variant of HSPG2 (P98160)
D78Y (p.Asp78Tyr) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, 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.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- TOPMed rs1453245298
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available