H76R (p.His76Arg) variant of ATP7A (Copper-transporting ATPase 1)
H76R (p.His76Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H76R (p.His76Arg) variant details
- p.His76Arg
- gnomAD X-77988348-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.12
- CADD 2.08
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available