L21Q (p.Leu21Gln) variant of TBCD (Tubulin-specific chaperone D)
L21Q (p.Leu21Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L21Q (p.Leu21Gln) variant details
- p.Leu21Gln
- gnomAD 17-82752255-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0881
- REVEL 0.02
- CADD 13.20
- PolyPhen-2 0.54
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available