G141S (p.Gly141Ser) variant of TUBB2B (Tubulin beta-2B chain)
G141S (p.Gly141Ser) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Complex cortical dysplasia with other brain malformatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G141S (p.Gly141Ser) variant details
- p.Gly141Ser
- rs1412515838
- ClinGen CA362588777
- ClinVar RCV001375946
- ClinVar RCV003264027
- Conflicting interpretations
- Inborn genetic diseases; Complex cortical dysplasia with other brain malformatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.98
- PolyPhen-2 0.30
- EVE 0.91
- MutPred 0.81
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Complex cortical dysplasia with other b)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)