A66T (p.Ala66Thr) variant of ADD1 (Alpha-adducin)
A66T (p.Ala66Thr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- gnomAD 4-2881898-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.19
- MetaSVM -0.81
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available