P59T (p.Pro59Thr) variant of ATP7A (Copper-transporting ATPase 1)
P59T (p.Pro59Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P59T (p.Pro59Thr) variant details
- p.Pro59Thr
- gnomAD X-77988296-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.72
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available