G16R (p.Gly16Arg) variant of ATP7A (Copper-transporting ATPase 1)
G16R (p.Gly16Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- gnomAD X-77971687-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.84
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available