A66A (p.Ala66Ala) variant of ADD1 (Alpha-adducin)
A66A (p.Ala66Ala) in ADD1 (Alpha-adducin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A66A (p.Ala66Ala) variant details
- p.Ala66Ala
- rs754003824
- gnomAD 4-2881900-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 12.10
- Population evidence available
- Structural context available
- Literature evidence available