V41F (p.Val41Phe) variant of ATP7A (Copper-transporting ATPase 1)
V41F (p.Val41Phe) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- rs1603379396
- gnomAD X-77975526-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- CADD 0.62
- Most common in the African/African-American population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available