G70A (p.Gly70Ala) variant of ATP7A (Copper-transporting ATPase 1)
G70A (p.Gly70Ala) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
G70A (p.Gly70Ala) variant details
- p.Gly70Ala
- rs782415705
- ClinGen CA413599037
- ClinVar RCV003152225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available