I234S (p.Ile234Ser) variant of TUBA1A (Tubulin alpha-1A chain)
I234S (p.Ile234Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I234S (p.Ile234Ser) variant details
- p.Ile234Ser
- rs1942171599
- ClinGen CA384640567
- ClinVar RCV001253582
- Ensembl rs1942171599
- Pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.93
- MetaLR 0.47
- MetaSVM -0.05
- PolyPhen-2 0.57
- SIFT 0.00
- MutPred 0.56
- ClinVar: Pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)