L27P (p.Leu27Pro) variant of TBCD (Tubulin-specific chaperone D)
L27P (p.Leu27Pro) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 17-82752273-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.13
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available