V41G (p.Val41Gly) variant of ATP7A (Copper-transporting ATPase 1)
V41G (p.Val41Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V41G (p.Val41Gly) variant details
- p.Val41Gly
- gnomAD X-77971787-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available