P54T (p.Pro54Thr) variant of ATP7A (Copper-transporting ATPase 1)
P54T (p.Pro54Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- gnomAD X-77988281-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.30
- CADD 12.60
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available