L3Q (p.Leu3Gln) variant of TBCD (Tubulin-specific chaperone D)
L3Q (p.Leu3Gln) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L3Q (p.Leu3Gln) variant details
- p.Leu3Gln
- gnomAD 17-82752201-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.14
- CADD 21.70
- PolyPhen-2 0.29
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available