F71L (p.Phe71Leu) variant of ATP7A (Copper-transporting ATPase 1)
F71L (p.Phe71Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- gnomAD X-77975586-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.02
- Population evidence available
- Structural context available
- Literature evidence available