L21M (p.Leu21Met) variant of TBCD (Tubulin-specific chaperone D)
L21M (p.Leu21Met) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 17-82752254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.06
- CADD 13.60
- PolyPhen-2 0.37
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available