A8A (p.Ala8Ala) variant of TBCD (Tubulin-specific chaperone D)
A8A (p.Ala8Ala) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1230793692
- gnomAD 17-82752217-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available