G3D (p.Gly3Asp) variant of ADD1 (Alpha-adducin)
G3D (p.Gly3Asp) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs113693299
- gnomAD 4-2875923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.14
- MetaSVM -0.96
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available