A16S (p.Ala16Ser) variant of TBCD (Tubulin-specific chaperone D)
A16S (p.Ala16Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 17-82752239-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.01
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available