D5V (p.Asp5Val) variant of TBCD (Tubulin-specific chaperone D)
D5V (p.Asp5Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
D5V (p.Asp5Val) variant details
- p.Asp5Val
- rs2047186096
- gnomAD 17-82752850-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available