E17Q (p.Glu17Gln) variant of TBCD (Tubulin-specific chaperone D)
E17Q (p.Glu17Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- ExAC rs775011890
- TOPMed rs775011890
- gnomAD rs775011890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.06
- CADD 25.40
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available