Q47E (p.Gln47Glu) variant of ADD1 (Alpha-adducin)
Q47E (p.Gln47Glu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q47E (p.Gln47Glu) variant details
- p.Gln47Glu
- gnomAD 4-2876054-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.15
- MetaSVM -1.03
- CADD 24.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available