Q133* (p.Gln133Ter) variant of ABCA1 (O95477)
Q133* (p.Gln133Ter) in ABCA1 (O95477) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q133* (p.Gln133Ter) variant details
- p.Gln133Ter
- ExAC rs774782707
- TOPMed rs774782707
- gnomAD rs774782707
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available