E19E (p.Glu19Glu) variant of TBCD (Tubulin-specific chaperone D)
E19E (p.Glu19Glu) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- rs1213422270
- gnomAD 17-82752250-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.90
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available