I16T (p.Ile16Thr) variant of TUBA1A (Tubulin alpha-1A chain)
I16T (p.Ile16Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- rs1942187200
- ClinGen CA384646043
- ClinVar RCV001095672
- NCI-TCGA TCGA novel
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 0.53
- MetaLR 0.62
- MetaSVM 0.22
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.44
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)