P12T (p.Pro12Thr) variant of ABCG8 (Q9H221)
P12T (p.Pro12Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 2-43832602-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 2.27
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available