E15V (p.Glu15Val) variant of TBCD (Tubulin-specific chaperone D)
E15V (p.Glu15Val) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E15V (p.Glu15Val) variant details
- p.Glu15Val
- gnomAD 17-82752237-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- REVEL 0.01
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available