A29G (p.Ala29Gly) variant of TBCD (Tubulin-specific chaperone D)
A29G (p.Ala29Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- rs1302882686
- gnomAD 17-82752925-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.71
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available