T20T (p.Thr20Thr) variant of ABCG8 (Q9H221)
T20T (p.Thr20Thr) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- gnomAD 2-43839113-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 2.70
- Population evidence available
- Structural context available
- Literature evidence available