G11V (p.Gly11Val) variant of TBCD (Tubulin-specific chaperone D)
G11V (p.Gly11Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 17-82752225-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.01
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available