T20R (p.Thr20Arg) variant of TBCD (Tubulin-specific chaperone D)
T20R (p.Thr20Arg) 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, published literature, and structural context.
T20R (p.Thr20Arg) variant details
- p.Thr20Arg
- gnomAD 17-82752252-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.03
- CADD 13.10
- PolyPhen-2 0.02
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available