L43M (p.Leu43Met) variant of ATP7A (Copper-transporting ATPase 1)
L43M (p.Leu43Met) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L43M (p.Leu43Met) variant details
- p.Leu43Met
- gnomAD X-77988248-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.71
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available