D48G (p.Asp48Gly) variant of ADD1 (Alpha-adducin)
D48G (p.Asp48Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D48G (p.Asp48Gly) variant details
- p.Asp48Gly
- gnomAD 4-2876058-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.62
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available