S21* (p.Ser21Ter) variant of ABCG8 (Q9H221)
S21* (p.Ser21Ter) in ABCG8 (Q9H221) 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.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- 1000Genomes rs144411000
- ExAC rs144411000
- TOPMed rs144411000
- gnomAD rs144411000
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available