I26T (p.Ile26Thr) variant of ATP7A (Copper-transporting ATPase 1)
I26T (p.Ile26Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- gnomAD X-77971718-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.81
- CADD 24.50
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available