C25Y (p.Cys25Tyr) variant of TUBA1A (Tubulin alpha-1A chain)
C25Y (p.Cys25Tyr) 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 Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
C25Y (p.Cys25Tyr) variant details
- p.Cys25Tyr
- rs1565627777
- ClinGen CA384645767
- ClinVar RCV000985164
- Ensembl rs1565627777
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)