A9E (p.Ala9Glu) variant of TBCD (Tubulin-specific chaperone D)
A9E (p.Ala9Glu) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD rs1184731475
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- CADD 15.00
- PolyPhen-2 0.21
- SIFT 0.44
- Population evidence available
- Structural context available