V60I (p.Val60Ile) variant of TUBB2B (Tubulin beta-2B chain)
V60I (p.Val60Ile) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- rs2113819578
- ClinGen CA362589755
- ClinVar RCV002052199
- ClinVar RCV003565506
- Uncertain significance
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.27
- MetaLR 0.27
- MetaSVM -0.54
- PolyPhen-2 0.00
- EVE 0.51
- MutPred 0.74
- ClinVar: Uncertain significance (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)