K38R (p.Lys38Arg) variant of CRX (Cone-rod homeobox protein)
K38R (p.Lys38Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2. The record also includes experimental measurements and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- TOPMed rs1968116093
- Uncertain significance
- Cone-rod dystrophy 2
- Missense
- ClinVar: Uncertain significance (Cone-rod dystrophy 2)
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.423