E30G (p.Glu30Gly) variant of ADD1 (Alpha-adducin)
E30G (p.Glu30Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs904476263
- gnomAD 4-2876004-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.24
- MetaSVM -0.56
- CADD 29.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available