C239F (p.Cys239Phe) variant of TUBB2B (Tubulin beta-2B chain)
C239F (p.Cys239Phe) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
C239F (p.Cys239Phe) variant details
- p.Cys239Phe
- rs878853284
- ClinGen CA10581581
- ClinVar RCV000225257
- UniProt VAR 078187
- Pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.99
- MetaLR 0.41
- MetaSVM -0.15
- PolyPhen-2 0.01
- EVE 0.69
- MutPred 0.69
- ClinVar: Pathogenic (Complex cortical dysplasia with other brain malformations 7)
- EBI: Pathogenic (in CDCBM7)
- UniProt: Pathogenic (in CDCBM7)
- Structural context available
- Cited in: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including… (PMID 25059107)
- Cited in: De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of… (PMID 26732629)