L56I (p.Leu56Ile) variant of ATP7A (Copper-transporting ATPase 1)
L56I (p.Leu56Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L56I (p.Leu56Ile) variant details
- p.Leu56Ile
- gnomAD X-77988287-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- CADD 13.30
- PolyPhen-2 0.03
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available