F67L (p.Phe67Leu) variant of ADD1 (Alpha-adducin)
F67L (p.Phe67Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F67L (p.Phe67Leu) variant details
- p.Phe67Leu
- gnomAD 4-2881901-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.18
- MetaSVM -0.72
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available