Y75* (p.Tyr75Ter) variant of ABCG5 (Q9H222)
Y75* (p.Tyr75Ter) in ABCG5 (Q9H222) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y75* (p.Tyr75Ter) variant details
- p.Tyr75Ter
- ExAC rs745310708
- TOPMed rs745310708
- gnomAD rs745310708
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available