A66G (p.Ala66Gly) variant of ADD1 (Alpha-adducin)
A66G (p.Ala66Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A66G (p.Ala66Gly) variant details
- p.Ala66Gly
- rs777977683
- gnomAD 4-2881899-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.21
- MetaSVM -0.76
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available