K13* (p.Lys13Ter) variant of ABCG8 (Q9H221)
K13* (p.Lys13Ter) in ABCG8 (Q9H221) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K13* (p.Lys13Ter) variant details
- p.Lys13Ter
- gnomAD 2-43839090-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available