E14K (p.Glu14Lys) variant of TBCD (Tubulin-specific chaperone D)
E14K (p.Glu14Lys) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- TOPMed rs907337469
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.04
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.33
- Population evidence available
- Structural context available