Q47L (p.Gln47Leu) variant of ADD1 (Alpha-adducin)
Q47L (p.Gln47Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q47L (p.Gln47Leu) variant details
- p.Gln47Leu
- rs755382822
- gnomAD 4-2876055-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.21
- MetaSVM -0.61
- CADD 28.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available