L81L (p.Leu81Leu) variant of ATP7A (Copper-transporting ATPase 1)
L81L (p.Leu81Leu) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L81L (p.Leu81Leu) variant details
- p.Leu81Leu
- gnomAD X-77988364-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 2.56
- Population evidence available
- Structural context available
- Literature evidence available