P14L (p.Pro14Leu) variant of ADD1 (Alpha-adducin)
P14L (p.Pro14Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 4-2875956-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.16
- MetaSVM -0.91
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available