T382A (p.Thr382Ala) variant of TUBA1A (Tubulin alpha-1A chain)
T382A (p.Thr382Ala) 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; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T382A (p.Thr382Ala) variant details
- p.Thr382Ala
- rs1555162294
- ClinGen CA384635414
- ClinVar RCV000502059
- ClinVar RCV000767442
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 0.66
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)