F49L (p.Phe49Leu) variant of ADD1 (Alpha-adducin)
F49L (p.Phe49Leu) 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.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- gnomAD 4-2876062-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available