A2A (p.Ala2Ala) variant of TBCD (Tubulin-specific chaperone D)
A2A (p.Ala2Ala) in TBCD (Tubulin-specific chaperone D) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 17-82752199-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.27
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available