E205K (p.Glu205Lys) variant of TUBB3 (Tubulin beta-3 chain)
E205K (p.Glu205Lys) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Complex cortical dysplasia with other brain malformations 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E205K (p.Glu205Lys) variant details
- p.Glu205Lys
- rs878853257
- ClinGen CA10575549
- cosmic curated COSV59248
- ClinVar RCV000023204
- Pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.95
- MetaLR 0.50
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic (in CDCBM1)
- UniProt: Pathogenic (in CDCBM1)
- 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)