A65L (p.Ala65Leu) variant of ATP7A (Copper-transporting ATPase 1)
A65L (p.Ala65Leu) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A65L (p.Ala65Leu) variant details
- p.Ala65Leu
- gnomAD X-77975575-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0794
- CADD 0.43
- Population evidence available
- Structural context available
- Literature evidence available