H20H (p.His20His) variant of ADD1 (Alpha-adducin)
H20H (p.His20His) in ADD1 (Alpha-adducin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H20H (p.His20His) variant details
- p.His20His
- rs144130874
- gnomAD 4-2875975-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 9.59
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available