CNGA3 and achromatopsia: Based on our findings, 3D proteoform-based structure-function analysis of CNGA3 variants in achromatopsia is a useful approach in pathogenicity determination, and reveals strong likelihood of pathogenicity of both our patient variant CNGA3 c.587 A > T, p.Gln196Leu as well as in 86.4% of CNGA3 VUS reported in ClinVar and the literature.