S172P (p.Ser172Pro) variant of TUBB2B (Tubulin beta-2B chain)
S172P (p.Ser172Pro) 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 0.81 / 1. The record also includes published literature and structural context.
S172P (p.Ser172Pro) variant details
- p.Ser172Pro
- rs137853194
- ClinGen CA250424
- ClinVar RCV000000454
- UniProt VAR 063389
- Pathogenic
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.73
- PolyPhen-2 1.00
- EVE 0.96
- MutPred 0.84
- 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 the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (PMID 19465910)
- Cited in: Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including… (PMID 25059107)