L27Q (p.Leu27Gln) variant of TBCD (Tubulin-specific chaperone D)
L27Q (p.Leu27Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- gnomAD 17-82752273-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- CADD 24.60
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available