A12A (p.Ala12Ala) variant of SLC2A10 (O95528)
A12A (p.Ala12Ala) in SLC2A10 (O95528) is a protein-truncating 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.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 20-46709984-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 8.33
- Population evidence available
- Structural context available
- Literature evidence available