D18Y (p.Asp18Tyr) variant of TBCD (Tubulin-specific chaperone D)
D18Y (p.Asp18Tyr) in TBCD (Tubulin-specific chaperone D) is a missense 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.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 17-82752245-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.04
- CADD 24.20
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available