C115* (p.Cys115Ter) variant of LRP2 (P98164)
C115* (p.Cys115Ter) in LRP2 (P98164) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C115* (p.Cys115Ter) variant details
- p.Cys115Ter
- rs1483364237
- ClinGen CA349168617
- ClinVar RCV002815649
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available