E14E (p.Glu14Glu) variant of TBCD (Tubulin-specific chaperone D)
E14E (p.Glu14Glu) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs1568079966
- gnomAD 17-82752235-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 10.90
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available