L62F (p.Leu62Phe) variant of ATP7A (Copper-transporting ATPase 1)
L62F (p.Leu62Phe) 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.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- gnomAD X-77975597-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.89
- Population evidence available
- Structural context available
- Literature evidence available