T58N (p.Thr58Asn) variant of ATP7A (Copper-transporting ATPase 1)
T58N (p.Thr58Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T58N (p.Thr58Asn) variant details
- p.Thr58Asn
- gnomAD X-77988294-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available