E139* (p.Glu139Ter) variant of HSPG2 (P98160)
E139* (p.Glu139Ter) in HSPG2 (P98160) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
E139* (p.Glu139Ter) variant details
- p.Glu139Ter
- gnomAD rs1305074074
- Stop Gained
- CADD 40.00
- Population evidence available