E152* (p.Glu152Ter) variant of ABCA1 (O95477)
E152* (p.Glu152Ter) 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.
E152* (p.Glu152Ter) variant details
- p.Glu152Ter
- gnomAD rs1231762813
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 42.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available