A66D (p.Ala66Asp) variant of ADD1 (Alpha-adducin)
A66D (p.Ala66Asp) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A66D (p.Ala66Asp) variant details
- p.Ala66Asp
- gnomAD 4-2881899-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.17
- MetaSVM -0.91
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available