A2T (p.Ala2Thr) variant of TBCD (Tubulin-specific chaperone D)
A2T (p.Ala2Thr) in TBCD (Tubulin-specific chaperone D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1279157812
- gnomAD rs1279157812
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available