A22G (p.Ala22Gly) variant of TBCD (Tubulin-specific chaperone D)
A22G (p.Ala22Gly) 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.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- gnomAD 17-82752258-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.01
- CADD 7.45
- PolyPhen-2 0.03
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available