P14A (p.Pro14Ala) variant of ADD1 (Alpha-adducin)
P14A (p.Pro14Ala) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- gnomAD 4-2875955-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.22
- MetaSVM -0.67
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available