L27M (p.Leu27Met) variant of TBCD (Tubulin-specific chaperone D)
L27M (p.Leu27Met) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- gnomAD 17-82752272-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available