Q43E (p.Gln43Glu) variant of TUBB3 (Tubulin beta-3 chain)
Q43E (p.Gln43Glu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
Q43E (p.Gln43Glu) variant details
- p.Gln43Glu
- TOPMed rs1423741574
- gnomAD rs1423741574
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available