G31R (p.Gly31Arg) variant of ATP7A (Copper-transporting ATPase 1)
G31R (p.Gly31Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- gnomAD X-77971732-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available