Q63H (p.Gln63His) variant of ADD1 (Alpha-adducin)
Q63H (p.Gln63His) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- rs1290513404
- gnomAD 4-2876104-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.62
- MetaLR 0.18
- MetaSVM -0.73
- CADD 12.49
- Population evidence available
- Structural context available
- Literature evidence available