A22D (p.Ala22Asp) variant of TBCD (Tubulin-specific chaperone D)
A22D (p.Ala22Asp) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- gnomAD 17-82752258-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.12
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available