T56M (p.Thr56Met) variant of TUBA1A (Tubulin alpha-1A chain)
T56M (p.Thr56Met) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- rs1565627727
- ClinGen CA384644979
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55497
- Pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.85
- MetaLR 0.81
- MetaSVM 0.72
- PolyPhen-2 0.22
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)