E34G (p.Glu34Gly) variant of ADD1 (Alpha-adducin)
E34G (p.Glu34Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- rs770915496
- gnomAD 4-2876016-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.13
- MetaSVM -0.93
- CADD 29.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available