R46Q (p.Arg46Gln) variant of TUBB3 (Tubulin beta-3 chain)
R46Q (p.Arg46Gln) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs1333706172
- ClinGen CA397471030
- cosmic curated COSV10020
- ClinVar RCV001843614
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.62
- CADD 27.10
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available