I5L (p.Ile5Leu) variant of TUBA1A (Tubulin alpha-1A chain)
I5L (p.Ile5Leu) 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 Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
I5L (p.Ile5Leu) variant details
- p.Ile5Leu
- rs387906840
- ClinGen CA213184
- ClinVar RCV000023197
- ClinVar RCV000767414
- Likely pathogenic
- Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.14
- MetaLR 0.38
- MetaSVM -0.37
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.56
- ClinVar: Likely pathogenic (Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. (PMID 21403111)
- Cited in: Tubulinopathies Overview. (PMID 27010057)