E6E (p.Glu6Glu) variant of TBCD (Tubulin-specific chaperone D)
E6E (p.Glu6Glu) 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.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- rs1211299248
- gnomAD 17-82752211-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.91
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available