A14D (p.Ala14Asp) variant of SLC30A8 (Q8IWU4)
A14D (p.Ala14Asp) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 8-117135368-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.07
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available