S73L (p.Ser73Leu) variant of ADD1 (Alpha-adducin)
S73L (p.Ser73Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S73L (p.Ser73Leu) variant details
- p.Ser73Leu
- rs200647918
- gnomAD 4-2881920-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.10
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available