T47A (p.Thr47Ala) variant of CRX (Cone-rod homeobox protein)
T47A (p.Thr47Ala) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- TOPMed rs1939392843
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.611