F30I (p.Phe30Ile) variant of TBCD (Tubulin-specific chaperone D)
F30I (p.Phe30Ile) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F30I (p.Phe30Ile) variant details
- p.Phe30Ile
- gnomAD rs1431928097
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.15
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available