I219T (p.Ile219Thr) variant of TUBA1A (Tubulin alpha-1A chain)
I219T (p.Ile219Thr) 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 Tubulinopathy-associated dysgyria; West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
I219T (p.Ile219Thr) variant details
- p.Ile219Thr
- rs2121244045
- ClinGen CA384641011
- ClinVar RCV001803468
- Ensembl rs2121244045
- Pathogenic
- Tubulinopathy-associated dysgyria; West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.80
- MetaLR 0.44
- MetaSVM -0.16
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic (Tubulinopathy-associated dysgyria; West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available