F30L (p.Phe30Leu) variant of TBCD (Tubulin-specific chaperone D)
F30L (p.Phe30Leu) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 17-82752281-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.14
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available