A73A (p.Ala73Ala) variant of ATP7A (Copper-transporting ATPase 1)
A73A (p.Ala73Ala) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A73A (p.Ala73Ala) variant details
- p.Ala73Ala
- rs1557231581
- gnomAD X-77988340-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 5.02
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available