I219M (p.Ile219Met) variant of TUBA1A (Tubulin alpha-1A chain)
I219M (p.Ile219Met) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
I219M (p.Ile219Met) variant details
- p.Ile219Met
- rs146680997
- ClinGen CA384640999
- ClinVar RCV001900984
- ClinVar RCV003223430
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.56
- MetaLR 0.52
- MetaSVM -0.06
- PolyPhen-2 0.36
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)