I66V (p.Ile66Val) variant of ATP7A (Copper-transporting ATPase 1)
I66V (p.Ile66Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I66V (p.Ile66Val) variant details
- p.Ile66Val
- gnomAD X-77988317-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.35
- CADD 18.50
- PolyPhen-2 0.10
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available