A29S (p.Ala29Ser) variant of TBCD (Tubulin-specific chaperone D)
A29S (p.Ala29Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 17-82752278-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.02
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available