L56L (p.Leu56Leu) variant of ATP7A (Copper-transporting ATPase 1)
L56L (p.Leu56Leu) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs2149082544
- gnomAD X-77988287-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 8.79
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available