T49I (p.Thr49Ile) variant of ATP7A (Copper-transporting ATPase 1)
T49I (p.Thr49Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs1557229693
- gnomAD X-77971781-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available