P14H (p.Pro14His) variant of ADD1 (Alpha-adducin)
P14H (p.Pro14His) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- rs1731216234
- gnomAD 4-2875956-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.19
- MetaSVM -0.74
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available