E77* (p.Glu77Ter) variant of ABCG5 (Q9H222)
E77* (p.Glu77Ter) in ABCG5 (Q9H222) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E77* (p.Glu77Ter) variant details
- p.Glu77Ter
- rs119480070
- ClinGen CA253377
- ClinVar RCV000005269
- ExAC rs119480070
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the… (PMID 16029460)