G98S (p.Gly98Ser) variant of TUBB3 (Tubulin beta-3 chain)
G98S (p.Gly98Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Complex cortical dysplasia with other brain malformations 1; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
G98S (p.Gly98Ser) variant details
- p.Gly98Ser
- rs587784505
- ClinGen CA213295
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10020
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.91
- MetaLR 0.68
- MetaSVM 0.57
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)