S30del (p.Ser30del) variant of ABCG8 (Q9H221)
S30del (p.Ser30del) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S30del (p.Ser30del) variant details
- gnomAD 2-43844526-TCTC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available