E13E (p.Glu13Glu) variant of TBCD (Tubulin-specific chaperone D)
E13E (p.Glu13Glu) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- rs1330927173
- gnomAD 17-82752232-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 8.11
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available