E34E (p.Glu34Glu) variant of ADD1 (Alpha-adducin)
E34E (p.Glu34Glu) in ADD1 (Alpha-adducin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E34E (p.Glu34Glu) variant details
- p.Glu34Glu
- gnomAD 4-2876017-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.85
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available