P357L (p.Pro357Leu) variant of TUBB2B (Tubulin beta-2B chain)
P357L (p.Pro357Leu) 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 Complex cortical dysplasia with other brain malformations 7; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P357L (p.Pro357Leu) variant details
- p.Pro357Leu
- rs1581525728
- ClinGen CA362585514
- ClinVar RCV000853391
- ClinVar RCV006387035
- Pathogenic/Likely pathogenic
- Complex cortical dysplasia with other brain malformations 7; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- CADD 25.00
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Complex cortical dysplasia with other brain malformations 7; Inb)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)