A9S (p.Ala9Ser) variant of TBCD (Tubulin-specific chaperone D)
A9S (p.Ala9Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 17-82752218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.06
- CADD 14.80
- PolyPhen-2 0.08
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available