T18N (p.Thr18Asn) variant of ATP7A (Copper-transporting ATPase 1)
T18N (p.Thr18Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
T18N (p.Thr18Asn) variant details
- p.Thr18Asn
- gnomAD X-77971694-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.62
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available