T20I (p.Thr20Ile) variant of ABCG8 (Q9H221)
T20I (p.Thr20Ile) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs1558766692
- gnomAD 2-43832654-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 5.78
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available