V7L (p.Val7Leu) variant of ATP7A (Copper-transporting ATPase 1)
V7L (p.Val7Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- gnomAD X-77971660-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.33
- CADD 13.20
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available