C8* (p.Cys8Ter) variant of ABCC6 (O95255)
C8* (p.Cys8Ter) in ABCC6 (O95255) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C8* (p.Cys8Ter) variant details
- p.Cys8Ter
- rs1412967184
- ClinGen CA395202921
- ClinVar RCV002226612
- TOPMed rs1412967184
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 27.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)