E288K (p.Glu288Lys) variant of TUBB3 (Tubulin beta-3 chain)
E288K (p.Glu288Lys) 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 TUBB3-related tubulinopathy; not provided; Complex cortical dysplasia with other. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
E288K (p.Glu288Lys) variant details
- p.Glu288Lys
- rs1057521924
- ClinGen CA16608343
- cosmic curated COSV59247
- ClinVar RCV000422965
- Pathogenic/Likely pathogenic
- TUBB3-related tubulinopathy; not provided; Complex cortical dysplasia with other
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.67
- PolyPhen-2 0.16
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (TUBB3-related tubulinopathy; not provided; Complex cortical dysp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)