T25I (p.Thr25Ile) variant of ATP7A (Copper-transporting ATPase 1)
T25I (p.Thr25Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- gnomAD rs1557229681
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available