C19C (p.Cys19Cys) variant of ATP7A (Copper-transporting ATPase 1)
C19C (p.Cys19Cys) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C19C (p.Cys19Cys) variant details
- p.Cys19Cys
- rs145406974
- gnomAD X-77971698-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 7.62
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available