P33L (p.Pro33Leu) variant of ADD1 (Alpha-adducin)
P33L (p.Pro33Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs749350133
- gnomAD 4-2876013-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.24
- MetaSVM -0.54
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available