Q47H (p.Gln47His) variant of ADD1 (Alpha-adducin)
Q47H (p.Gln47His) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- cosmic curated COSV10728
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.20
- MetaSVM -0.69
- CADD 25.10
- Structural context available