Q6* (p.Gln6Ter) variant of ABCA1 (O95477)
Q6* (p.Gln6Ter) in ABCA1 (O95477) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- rs1840850607
- ClinGen CA374319069
- ClinVar RCV001951210
- TOPMed rs1840850607
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available