V41L (p.Val41Leu) variant of ATP7A (Copper-transporting ATPase 1)
V41L (p.Val41Leu) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- gnomAD rs1557231558
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available