T178M (p.Thr178Met) variant of TUBB3 (Tubulin beta-3 chain)
T178M (p.Thr178Met) 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 Inborn genetic diseases; not provided; Complex cortical dysplasia with other bra. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T178M (p.Thr178Met) variant details
- p.Thr178Met
- rs747480526
- ClinGen CA8256123
- cosmic curated COSV59247
- ClinVar RCV000023203
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Complex cortical dysplasia with other bra
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.84
- MetaLR 0.67
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Complex cortical dysplasi)
- EBI: Pathogenic (in CDCBM1)
- UniProt: Pathogenic (in CDCBM1)
- Population evidence available
- Structural context available
- Cited in: Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration… (PMID 20829227)
- Cited in: Tubulinopathies Overview. (PMID 27010057)