Q22* (p.Gln22Ter) variant of ABCG5 (Q9H222)
Q22* (p.Gln22Ter) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs781098379
- ClinGen CA1636808
- ClinVar RCV002282969
- ClinVar RCV002283584
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)