G35S (p.Gly35Ser) variant of ATP7A (Copper-transporting ATPase 1)
G35S (p.Gly35Ser) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- gnomAD X-77971744-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.79
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available