E13G (p.Glu13Gly) variant of TBCD (Tubulin-specific chaperone D)
E13G (p.Glu13Gly) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD 17-82752231-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available