G16V (p.Gly16Val) variant of ATP7A (Copper-transporting ATPase 1)
G16V (p.Gly16Val) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs2522252247
- ClinGen CA413597704
- ClinVar RCV003457185
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available