P12L (p.Pro12Leu) variant of TBCD (Tubulin-specific chaperone D)
P12L (p.Pro12Leu) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 17-82752228-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0736
- REVEL 0.01
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available