R85* (p.Arg85Ter) variant of HSPG2 (P98160)
R85* (p.Arg85Ter) in HSPG2 (P98160) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
R85* (p.Arg85Ter) variant details
- p.Arg85Ter
- rs747493127
- ClinGen CA673952
- NCI-TCGA Cosmic COSV1010
- NCI-TCGA Cosmic COSV6593
- Pathogenic
- Stop Gained
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available