C25F (p.Cys25Phe) variant of TUBA1A (Tubulin alpha-1A chain)
C25F (p.Cys25Phe) 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 not provided; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- rs1565627777
- ClinGen CA384645769
- ClinVar RCV000767425
- ClinVar RCV003558566
- Pathogenic
- not provided; Tubulinopathy
- 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: Pathogenic (not provided; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)