D306Y (p.Asp306Tyr) variant of TUBA1A (Tubulin alpha-1A chain)
D306Y (p.Asp306Tyr) 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; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D306Y (p.Asp306Tyr) variant details
- p.Asp306Tyr
- rs1555162330
- ClinGen CA384638429
- ClinVar RCV000523826
- ClinVar RCV000767458
- Likely pathogenic
- not provided; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (not provided; Tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)