R86I (p.Arg86Ile) variant of TUBB2B (Tubulin beta-2B chain)
R86I (p.Arg86Ile) in TUBB2B (Tubulin beta-2B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complex cortical dysplasia with other brain malformations 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R86I (p.Arg86Ile) variant details
- p.Arg86Ile
- rs2533618327
- ClinVar RCV004566642
- Uncertain significance
- Complex cortical dysplasia with other brain malformations 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.64
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Complex cortical dysplasia with other brain malformations 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)
- Cited in: Tubulinopathies Overview. (PMID 27010057)