W24G (p.Trp24Gly) variant of ATP7A (Copper-transporting ATPase 1)
W24G (p.Trp24Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W24G (p.Trp24Gly) variant details
- p.Trp24Gly
- rs1000168750
- gnomAD X-77975547-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 5.51
- Most common in the 1KG:MSL population (allele frequency 0.015)
- Structural context available
- Literature evidence available