Q23* (p.Gln23Ter) variant of APOA1 (Apolipoprotein A-I)
Q23* (p.Gln23Ter) in APOA1 (Apolipoprotein A-I) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs387906570
- ClinGen CA127571
- ClinVar RCV002514117
- ClinVar RCV004555839
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. (PMID 8282791)