T61N (p.Thr61Asn) variant of ATP7A (Copper-transporting ATPase 1)
T61N (p.Thr61Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T61N (p.Thr61Asn) variant details
- p.Thr61Asn
- gnomAD X-77988303-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- CADD 15.10
- PolyPhen-2 0.34
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available