P173R (p.Pro173Arg) variant of TUBB2B (Tubulin beta-2B chain)
P173R (p.Pro173Arg) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.70 / 1. The record also includes published literature and structural context.
P173R (p.Pro173Arg) variant details
- p.Pro173Arg
- rs2113819240
- ClinGen CA362588220
- ClinVar RCV002221843
- ClinVar RCV004721027
- Pathogenic/Likely pathogenic
- not provided; Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.44
- PolyPhen-2 1.00
- EVE 0.78
- MutPred 0.79
- ClinVar: Pathogenic/Likely pathogenic (not provided; Complex cortical dysplasia with other brain malfor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)