A12P (p.Ala12Pro) variant of TUBA1A (Tubulin alpha-1A chain)
A12P (p.Ala12Pro) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TUBA1A-related disorder. The record also includes structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- rs2498863670
- ClinGen CA384646112
- ClinVar RCV003402831
- Uncertain significance
- TUBA1A-related disorder
- Missense
- ClinVar: Uncertain significance (TUBA1A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available