A8S (p.Ala8Ser) variant of TBCD (Tubulin-specific chaperone D)
A8S (p.Ala8Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 17-82752215-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.07
- CADD 16.00
- PolyPhen-2 0.17
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available