Y53* (p.Tyr53Ter) variant of APOA1 (Apolipoprotein A-I)
Y53* (p.Tyr53Ter) in APOA1 (Apolipoprotein A-I) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y53* (p.Tyr53Ter) variant details
- p.Tyr53Ter
- gnomAD rs1177384340
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available