T239P (p.Thr239Pro) variant of TUBA1A (Tubulin alpha-1A chain)
T239P (p.Thr239Pro) 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 Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
T239P (p.Thr239Pro) variant details
- p.Thr239Pro
- rs1064795738
- ClinGen CA16619550
- ClinVar RCV000479503
- ClinVar RCV000767503
- Likely pathogenic
- Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.67
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Tubulinopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)