p.Thr17 Ala18del variant of ADD1 (Alpha-adducin)
p.Thr17 Ala18del in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr17 Ala18del variant details
- gnomAD 4-2875961-ACCACAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available