S12L (p.Ser12Leu) variant of ADD1 (Alpha-adducin)
S12L (p.Ser12Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- rs1342538275
- gnomAD 4-2875950-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.07
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available