Q43R (p.Gln43Arg) variant of TUBB3 (Tubulin beta-3 chain)
Q43R (p.Gln43Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- TOPMed rs1338930472
- gnomAD rs1338930472
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.55
- CADD 23.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available