T51I (p.Thr51Ile) variant of TUBA1A (Tubulin alpha-1A chain)
T51I (p.Thr51Ile) 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; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs587784485
- ClinGen CA213262
- ClinVar RCV000147801
- ClinVar RCV000767516
- Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.67
- ClinVar: Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)