T7A (p.Thr7Ala) variant of SLC30A8 (Q8IWU4)
T7A (p.Thr7Ala) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- gnomAD 8-117135346-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available