C19F (p.Cys19Phe) variant of ATP7A (Copper-transporting ATPase 1)
C19F (p.Cys19Phe) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- gnomAD X-77971625-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available