L117P (p.Leu117Pro) variant of TUBB2B (Tubulin beta-2B chain)
L117P (p.Leu117Pro) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- rs397514569
- ClinGen CA250742
- ClinVar RCV000032934
- ClinVar RCV000439702
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.72
- PolyPhen-2 1.00
- EVE 0.99
- MutPred 0.86
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in CDCBM7)
- UniProt: Pathogenic (in CDCBM7)
- Structural context available
- Cited in: Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (PMID 22333901)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)