P15L (p.Pro15Leu) variant of ADD1 (Alpha-adducin)
P15L (p.Pro15Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs33915400
- gnomAD 4-2875959-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.09
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available