T20I (p.Thr20Ile) variant of TBCD (Tubulin-specific chaperone D)
T20I (p.Thr20Ile) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- TOPMed rs1026336168
- gnomAD rs1026336168
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.02
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available