A8T (p.Ala8Thr) variant of TBCD (Tubulin-specific chaperone D)
A8T (p.Ala8Thr) 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.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD rs1203424416
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 0.09
- Population evidence available
- Structural context available