C127* (p.Cys127Ter) variant of TUBB3 (Tubulin beta-3 chain)
C127* (p.Cys127Ter) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C127* (p.Cys127Ter) variant details
- p.Cys127Ter
- ESP rs145375049
- ExAC rs145375049
- TOPMed rs145375049
- gnomAD rs145375049
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 37.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available