Y42* (p.Tyr42Ter) variant of APOA1 (Apolipoprotein A-I)
Y42* (p.Tyr42Ter) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- rs1591331259
- gnomAD rs1591331259
- ClinGen CA382719292
- ClinVar RCV003314532
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available