G98R (p.Gly98Arg) variant of TUBB2B (Tubulin beta-2B chain)
G98R (p.Gly98Arg) 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 not provided; Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G98R (p.Gly98Arg) variant details
- p.Gly98Arg
- rs797046075
- ClinGen CA251306
- ClinVar RCV000192694
- ClinVar RCV000422483
- Conflicting interpretations
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- CADD 24.10
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)