T56N (p.Thr56Asn) variant of TUBA1A (Tubulin alpha-1A chain)
T56N (p.Thr56Asn) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
T56N (p.Thr56Asn) variant details
- p.Thr56Asn
- rs2121247899
- ClinGen CA2580086346
- ClinVar RCV002276375
- Ensembl rs2121247899
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available