R121Q (p.Arg121Gln) variant of TUBB3 (Tubulin beta-3 chain)
R121Q (p.Arg121Gln) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R121Q (p.Arg121Gln) variant details
- p.Arg121Gln
- rs1229540455
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59249
- TOPMed rs1229540455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available