S88* (p.Ser88Ter) variant of ABCG5 (Q9H222)
S88* (p.Ser88Ter) in ABCG5 (Q9H222) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S88* (p.Ser88Ter) variant details
- p.Ser88Ter
- ExAC rs767611945
- TOPMed rs767611945
- gnomAD rs767611945
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 43.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available