R46W (p.Arg46Trp) variant of TUBB3 (Tubulin beta-3 chain)
R46W (p.Arg46Trp) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental disorder; not provided; Complex cortical dysplasia with other brai. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- rs1555625363
- ClinGen CA397471028
- ClinVar RCV000656083
- ClinVar RCV001824143
- Conflicting interpretations
- Developmental disorder; not provided; Complex cortical dysplasia with other brai
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.95
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (Developmental disorder; not provided; Complex cortical dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)
- Cited in: Congenital Fibrosis of the Extraocular Muscles Overview. (PMID 20301522)