E69K (p.Glu69Lys) variant of TUBB3 (Tubulin beta-3 chain)
E69K (p.Glu69Lys) in TUBB3 (Tubulin beta-3 chain) 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.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- rs2544625618
- ClinGen CA397471252
- ClinVar RCV002284680
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available