L21V (p.Leu21Val) variant of TBCD (Tubulin-specific chaperone D)
L21V (p.Leu21Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 17-82752254-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.01
- CADD 8.31
- PolyPhen-2 0.02
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available