A2S (p.Ala2Ser) variant of TBCD (Tubulin-specific chaperone D)
A2S (p.Ala2Ser) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 17-82752197-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.05
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available