A65T (p.Ala65Thr) variant of ATP7A (Copper-transporting ATPase 1)
A65T (p.Ala65Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- gnomAD X-77975577-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0833
- CADD 0.70
- Population evidence available
- Structural context available
- Literature evidence available