D18E (p.Asp18Glu) variant of TBCD (Tubulin-specific chaperone D)
D18E (p.Asp18Glu) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, 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 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- rs1003016750
- ClinGen CA295248477
- ClinVar RCV002896286
- TOPMed rs1003016750
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0344
- REVEL 0.01
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)