K69E (p.Lys69Glu) variant of CNGA1 (P29973)
K69E (p.Lys69Glu) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The record also includes structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- rs2475816337
- ClinGen CA356835026
- ClinVar RCV003890933
- Uncertain significance
- Retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available