V41V (p.Val41Val) variant of ATP7A (Copper-transporting ATPase 1)
V41V (p.Val41Val) in ATP7A (Copper-transporting ATPase 1) is a synonymous 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.
V41V (p.Val41Val) variant details
- p.Val41Val
- rs1190315764
- gnomAD X-77975528-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.45
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available