Q63* (p.Gln63Ter) variant of ABCG5 (Q9H222)
Q63* (p.Gln63Ter) in ABCG5 (Q9H222) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- TOPMed rs986977157
- gnomAD rs986977157
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 35.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available