Y45* (p.Tyr45Ter) variant of ABCG5 (Q9H222)
Y45* (p.Tyr45Ter) in ABCG5 (Q9H222) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y45* (p.Tyr45Ter) variant details
- p.Tyr45Ter
- ExAC rs763278758
- TOPMed rs763278758
- gnomAD rs763278758
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available