P85A (p.Pro85Ala) variant of ADD1 (Alpha-adducin)
P85A (p.Pro85Ala) 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.
P85A (p.Pro85Ala) variant details
- p.Pro85Ala
- rs1424603008
- gnomAD 4-2881955-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.20
- MetaSVM -0.80
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available