Y210C (p.Tyr210Cys) variant of TUBA1A (Tubulin alpha-1A chain)
Y210C (p.Tyr210Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
Y210C (p.Tyr210Cys) variant details
- p.Tyr210Cys
- rs1565627253
- ClinGen CA384641196
- ClinVar RCV000767413
- ClinVar RCV001388958
- Pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.92
- MetaLR 0.66
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.59
- ClinVar: Pathogenic (Tubulinopathy; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)