T20A (p.Thr20Ala) variant of ABCG8 (Q9H221)
T20A (p.Thr20Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- rs911173521
- gnomAD 2-43832653-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- CADD 0.82
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available