A6T (p.Ala6Thr) variant of ABCG8 (Q9H221)
A6T (p.Ala6Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 2-43839069-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.15
- MetaLR 0.29
- MetaSVM -0.81
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available