G109R (p.Gly109Arg) variant of TUBB3 (Tubulin beta-3 chain)
G109R (p.Gly109Arg) 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 TUBB3-related disorder. The record also includes structural context.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- rs2544627074
- ClinGen CA397474215
- ClinVar RCV004548964
- Uncertain significance
- TUBB3-related disorder
- Missense
- ClinVar: Uncertain significance (TUBB3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available