Q51* (p.Gln51Ter) variant of ABCA1 (O95477)
Q51* (p.Gln51Ter) in ABCA1 (O95477) is a protein-truncating change. 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.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- gnomAD rs1260852374
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 46.00
- Population evidence available
- Structural context available