E19Q (p.Glu19Gln) variant of TBCD (Tubulin-specific chaperone D)
E19Q (p.Glu19Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- TOPMed rs1348366650
- gnomAD rs1348366650
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.03
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available